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<title>
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Entry
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- *110300 - ABO GLYCOSYLTRANSFERASE; ABO
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- OMIM
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</ul>
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</div>
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</nav>
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<div id="mimSearch" class="hidden-print">
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<div class="container">
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<form method="get" action="/search" id="mimEntrySearchForm" name="entrySearchForm" class="form-horizontal">
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<input type="hidden" id="mimSearchIndex" name="index" value="entry" />
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<input type="hidden" id="mimSearchStart" name="start" value="1" />
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<input type="hidden" id="mimSearchLimit" name="limit" value="10" />
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<input type="hidden" id="mimSearchSort" name="sort" value="score desc, prefix_sort desc" />
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<div class="row">
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<div class="col-lg-8 col-md-8 col-sm-8 col-xs-8">
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<div class="form-group">
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<div class="input-group">
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<input type="search" id="mimEntrySearch" name="search" class="form-control" value="" placeholder="Search OMIM..." maxlength="5000" autocomplete="off" autocorrect="off" autocapitalize="none" spellcheck="false" autofocus />
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<div class="input-group-btn">
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<button type="submit" id="mimEntrySearchSubmit" class="btn btn-default" style="width: 5em;"><span class="glyphicon glyphicon-search"></span></button>
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<button type="button" class="btn btn-default dropdown-toggle" data-toggle="dropdown"> Options <span class="caret"></span></button>
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<ul class="dropdown-menu dropdown-menu-right">
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<li class="dropdown-header">
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Advanced Search
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/entry"> OMIM </a>
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/geneMap"> Gene Map </a>
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</li>
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<li role="separator" class="divider"></li>
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<li>
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<a href="/history"> Search History </a>
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</ul>
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</div>
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</div>
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<div class="autocomplete" id="mimEntrySearchAutocomplete"></div>
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</div>
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<div class="col-lg-4 col-md-4 col-sm-4 col-xs-4">
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<span class="small">
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</form>
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<p />
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</div>
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<!-- <div id="mimSearch"> -->
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<div class="container hidden-print">
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<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
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<div id="mimAlertBanner">
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</div>
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</div>
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</div>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-2 hidden-sm hidden-xs">
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*110300</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<ul id="mimFloatingTocMenuItems" class="nav nav-pills nav-stacked mim-floating-toc-padding">
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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</li>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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</li>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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</li>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/110300">Table View</a>
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</li>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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</li>
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<li role="presentation">
|
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
|
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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</div>
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</div>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
|
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</div>
|
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</a>
|
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
|
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<span class="panel-title">
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<span class="small">
|
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
|
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</a>
|
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</span>
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</span>
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</div>
|
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
|
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000175164;t=ENST00000453660" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=28" class="mim-tip-hint" title="Detailed views of the complete genomes of selected organisms from vertebrates to protozoa." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Genome Viewer', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Genome Viewer</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=110300" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
|
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<span class="panel-title">
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<span class="small">
|
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
|
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</a>
|
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</span>
|
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000175164;t=ENST00000453660" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_020469" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=110300" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
|
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</div>
|
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
|
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<span class="panel-title">
|
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<span class="small">
|
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
|
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</a>
|
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</span>
|
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</span>
|
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</div>
|
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=05821&isoform_id=05821_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/ABO" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/protein/114949,340078,595856,992596,1783208,1783210,1783212,1783214,1783216,1783218,1783226,1783228,2352626,2623549,2623551,2623553,2623555,4091881,4262673,4590450,4590452,4590454,4590460,4590464,4590468,4590472,4590476,4590480,4590484,4590488,4590492,4590502,5802359,5802361,5802363,5802366,5802368,6013470,6318882,6467540,6467544,6467548,6467552,6467556,7263948,7263950,7263952,7263956,11230851,12957182,12957184,12957186,12957188,12957195,12957197,13347282,17225290,17225292,17225294,17225296,17225298,17225300,17225302,17225304,17225306,17225308,17225310,17225312,17225314,17225316,17225318,18497311,22091533,22091535,22595346,23386284,30039649,33317266,33317268,38456058,38570239,40643612,40643614,40643616,40643618,40643620,40643622,40643624,40643626,40643628,40643630,40643632,40643634,40643636,40643638,40643640,40643642,40643644,40643646,40643648,40643650,40643652,40643654,40643656,40643658,40643660,40643662,40643664,40643666,40643668,40643670,40643672,40643674,40950519,41019204,41350426,42433292,42433311,46578413,47479682,47481204,47776296,47776298,47776300,47776302,47776304,47776306,47776308,47776310,47776312,47776314,47776316,47776318,47776320,47776322,49036545,50956448,53760535,55773624,55773626,55773628,56849484,56849486,58331216,61139582,61139584,62001785,62001789,62001793,62001797,62001801,62083014,62083018,62996396,67508891,68510106,68510108,68510110,68638150,71148693,71493129,71493131,72256530,81170828,81170830,82569008,83700646,83700648,83700650,83700652,84620104,84620106,88999681,89276742,109730365,110644890,110644892,110644894,110644896,110644898,110644900,110644902,119352634,119443831,119608460,145202978,145202980,145202982,145202984,145202986,145202988,156187281,157644769,157849644,157886479,157886480,161376752,162316950,162316952,164598946,164598948,164598950,164598952,164598954,164604809,164664370,164664372,164664374,164664376,164709083,166080329,167465945,167465947,168203366,170675063,170675065,171673975,189409564,194378796,197091188,198385569,209360711,209360713,218533695,222877226,223887155,225579972,227343630,227343632,227343634,227343636,227343638,227343640,238801317,240064666,240064692,240064720,240064746,241993976,241993978,285310278,285310282,285310284,290563769,296936489,300393858,300393860,305671495,307343246,307343248,310722931,310722933,310722935,310722937,310722939,310722941,310722943,310722945,310722947,310722949,310722951,310722953,313766835,323695272,325197080,325197082,325197084,325197086,325197088,325197090,325197092,325197094,325197096,325197100,325197102,325197104,326787485,327421838,327421840,327421842,327421844,327421846,327421848,341572387,345650982,346681217,350528999,354806304,358762096,359392415,374533499,374533501,374533504,374533506,377657173,378342841,383302771,385141178,385268281,392522032,392522034,393007858,395759507,395759510,396084181,396582395,402243565,406042101,406042103,406042105,406042107,408474551,409191781,409191783,409191785,409194146,453040225,476465101,499141351,514252288,526311492,529158559,529158561,529158563,542674944,549059885,551486063,551486065,551497960,556522871,557359654,557359656,557359660,557359662,557359664,557359666,560171835,560171837,560171839,560171841,560171843,560171845,560171847,560171849,560171851,560171853,560171855,564272743,564272745,564272747,564272749,566066766,573972247,573972251,576106567,584273226,584273228,597622112,599088263,600971539,621455553,621455555,621455557,641689262,641689264,641689266,651209619,659113917,683415351,689436233,695133420,701168653,702084607,702084609,724473501,728797230,728797232,732664047,734655975,743405510,751814175,751814177,751814179,752295857,766544963,808692406,830281365,906358071,906358073,922059009,922059710,922577166,926743961,932511023,939731522,946520847,959479624,959479629,961349815,975829059,1000837144,1008700014,1009504413,1015635350,1026982316,1039036785,1041611062,1041611064,1041611066,1041611068,1041611070,1041611072,1041611074,1041611076,1041611078,1041611080,1061776540,1103652699,1145143418,1149551462,1151064487,1154340935,1160421305,1167503230,1176836700,1216495400,1216630304,1238815488,1238817868,1272210329,1275456615,1314778857,1314778859,1331396552,1331396554,1360475493,1366794072,1388010884,1390709662,1406956820,1408121810,1433538224,1435083055,1466120312,1508029070,1517386369,1517386371,1524850567,1524850569,1524850571,1524850594,1562483056,1562625980,1563047808,1571071940,1571071942,1573312586,1580082362,1580082364,1591219699,1595659715,1595659717,1595659719,1595659723,1613886787,1653972595,1653972869,1674914690,1678500319,1708623543,1722482202,1722482204,1723843402,1746154244,1747860066,1748187156,1754177034,1755716231,1755716233,1756318583,1758971786,1760744849,1760843536,1784269744,1786479110,1789814071,1795714688,1806102518,1812619275,1815405449,1822137954,1843801533,1860272082,1860272084,1860272086,1860272088,1863596842,1870287956,1887153975,1904958789,1912461471,1916864677,1916864689,1933200420,1934901124,1938232772,1938430928,1953442783,1995717137,2004088650,2029846838,2048682539,2048682561,2062465654,2075385431,2075385435,2100343424,2100351592,2133013264,2152004715,2165233968,2165233970,2169106593,2181187535,2184812809,2199159319,2199159321,2206603405,2206603407,2206603409,2212835579,2212835581,2212835583,2212835585,2212835587,2212835589,2212835591,2212835593,2212835595,2212835597,2212835599,2212835601,2212835603,2212835605,2212835607,2212835609,2212835611,2212835613,2212835615,2212835617,2212835619,2212835621,2212835623,2212835625,2212835627,2212835629,2212835631,2212835633,2212835635,2212835637,2212835639,2212835641,2212835643,2212835645,2212835647,2212835649,2212835651,2212835653,2212835655,2212835657,2212835659,2212835661,2212835663,2212835665,2212835667,2212835669,2212835671,2212835673,2212835675,2212835677,2212835679,2212835681,2212835683,2212835685,2212835687,2212835689,2212835691,2212835693,2212835695,2212835697,2212835699,2212835701,2212835703,2212835705,2212835707,2212835709,2212835711,2212835713,2212835715,2212835717,2212835719,2212835721,2212835723,2212835725,2212835727,2212835729,2212835731,2212835733,2212835735,2212835737,2212835739,2212835741,2212835743,2212835745,2212835747,2212835749,2212835751,2212835753,2212835755,2212835757,2212835759,2212835761,2212835763,2212835765,2212835767,2212835769,2212835771,2212835773,2212835775,2212835777,2212835779,2212835781,2212835783,2212835785,2212835787,2212835789,2212835791,2212835793,2212835795,2212835797,2212835799,2212835801,2212835803,2212835805,2212835807,2212835809,2212835811,2212835813,2212835815,2212835817,2212835819,2212835821,2212835823,2212835825,2212835827,2212835829,2212835831,2212835833,2212835835,2212835837,2212835839,2212835841,2212835843,2212835845,2212835847,2212835849,2212835851,2212835853,2212835855,2212835857,2212835859,2212835861,2212835863,2212835865,2212835867,2212835869,2212835871,2212835873,2212835875,2212835877,2212835879,2212835881,2212835883,2212835885,2221572844,2233238808,2236026630,2236026650,2245534889,2257663719,2261129321,2269798335,2280517498,2289102633,2293040443,2296355342,2296355344,2307919613,2309710120,2309710122,2309710276,2309789562,2310909212,2315909482,2318783275,2318783277,2318783285,2321946585,2325361276,2325501852,2325501854,2326009436,2326009438,2327041237,2327532742,2327532745,2327532747,2327532749,2327534154,2327654808,2327654853,2328582553,2329513945,2329513947,2329563199,2333749900,2334239686,2370652613,2427662649,2427662673,2444493035,2444493037,2445456830,2452509286,2468008607,2469015621,2482564446,2505219654,2515759075,2519269251,2528844582,2545607782,2557380180,2567115037,2567115764,2572100611,2580429245,2624696815,2632709270,2634202234,2645091205,2657184794,2657184796,2657184798,2657184800,2697165951,2700983649,2724422443,2737422119,2737422124,2744438172,2775785612,2775785614,2784127986,2784127988,2784127990,2784127996,2784127998,2789636921,2814495321,2814495323,2814495325,2814495327,2814495685,2837539867,2837540022,2837540071,2837540127,2837540171,2837540221,2889528813,2889528823,2890023023,2905084260" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></div>
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<div><a href="https://www.uniprot.org/uniprotkb/P16442" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=28" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></div>
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<div><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000175164;t=ENST00000453660" class="mim-tip-hint" title="Orthologs, paralogs, regulatory regions, and splice variants." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=ABO" class="mim-tip-hint" title="The Human Genome Compendium; web-based cards integrating automatically mined information on human genes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneCards', 'domain': 'genecards.org'})">GeneCards</a></div>
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<div><a href="http://amigo.geneontology.org/amigo/search/annotation?q=ABO" class="mim-tip-hint" title="Terms, defined using controlled vocabulary, representing gene product properties (biologic process, cellular component, molecular function) across species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneOntology', 'domain': 'amigo.geneontology.org'})">Gene Ontology</a></div>
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<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+28" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<dd><a href="http://v1.marrvel.org/search/gene/ABO" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
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<dd><a href="https://monarchinitiative.org/NCBIGene:28" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/28" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr9&hgg_gene=ENST00000611156.4&hgg_start=133250401&hgg_end=133275201&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=110300[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=110300[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000175164" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=ABO" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=ABO" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></div>
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<div><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=ABO" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=ABO&upstreamSize=0&downstreamSize=0&x=0&y=0" class="mim-tip-hint" title="National Heart, Lung, and Blood Institute Exome Variant Server." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NHLBI EVS', 'domain': 'evs.gs.washington.edu'})">NHLBI EVS</a></div>
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<div><a href="https://www.pharmgkb.org/gene/PA24415" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:79" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:2135738" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></div>
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<div><a href="http://v1.marrvel.org/search/gene/ABO#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
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<div><a href="http://www.informatics.jax.org/marker/MGI:2135738" class="mim-tip-hint" title="Mouse Genome Informatics; international database resource for the laboratory mouse, including integrated genetic, genomic, and biological data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Gene', 'domain': 'informatics.jax.org'})">MGI Mouse Gene</a></div>
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<div><a href="https://www.mmrrc.org/catalog/StrainCatalogSearchForm.php?search_query=" class="mim-tip-hint" title="Mutant Mouse Resource & Research Centers." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MMRRC', 'domain': 'mmrrc.org'})">MMRRC</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/28/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://omia.org/results?search_type=advanced&omia_id=001089,002594" class="mim-tip-hint" title="OMIA" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OMIA', 'domain': 'omia.angis.org.au'})">OMIA</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=28" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:28" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=ABO&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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110300
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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ABO GLYCOSYLTRANSFERASE; ABO
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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ABO HISTO-BLOOD GROUP GLYCOSYLTRANSFERASES
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="includedTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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Other entities represented in this entry:
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</span>
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</p>
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</div>
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<div>
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<span class="h3 mim-font">
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TRANSFERASE A, ALPHA 1-3-N-ACETYLGALACTOSAMINYLTRANSFERASE, INCLUDED
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</span>
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</div>
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<div>
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<span class="h4 mim-font">
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TRANSFERASE B, ALPHA 1-3-GALACTOSYLTRANSFERASE, INCLUDED
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</span>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=ABO" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">ABO</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/9/608?start=-3&limit=10&highlight=608">9q34.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr9:133250401-133275201&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">9:133,250,401-133,275,201</a> </span>
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</em>
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</strong>
|
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</div>
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/9/608?start=-3&limit=10&highlight=608">
|
|
9q34.2
|
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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[Blood group, ABO system]
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/616093"> 616093 </a>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/110300" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/110300" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
|
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
|
|
<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
|
<strong>TEXT</strong>
|
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</span>
|
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</span>
|
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</h4>
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<div>
|
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<a id="description" class="mim-anchor"></a>
|
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
|
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<strong>Description</strong>
|
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</span>
|
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</h4>
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>The ABO gene encodes a glycosyltransferase that catalyzes the transfer of carbohydrates to the H antigen (FUT1; <a href="/entry/211100">211100</a>), forming the antigenic structures of the ABO blood group (<a href="/entry/616093">616093</a>). The proteins encoded by the A and B alleles of ABO differ minimally in amino acid sequence but catalyze the transfer of different carbohydrates (N-acetylgalactosamine or galactose) onto the H antigen to form the A or B antigens. Individuals with the O blood group do not produce either the A or B antigens because of a single-base deletion (summary by <a href="#1" class="mim-tip-reference" title="Amundadottir, L., Kraft, P., Stolzenberg-Solomon, R. Z., Fuchs, C. S., Petersen, G. M., Arslan, A. A., Bueno-de-Mesquita, H. B., Gross, M., Helzlsouer, K., Jacobs, E. J., LaCroix, A., Zheng, W., and 59 others. <strong>Genome-wide association study identifies variants in the ABO locus associated with susceptibility to pancreatic cancer.</strong> Nature Genet. 41: 986-990, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19648918/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19648918</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19648918[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.429" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19648918">Amundadottir et al., 2009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19648918" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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<div>
|
|
<br />
|
|
</div>
|
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</div>
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<div>
|
|
<a id="cloning" class="mim-anchor"></a>
|
|
<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimCloningToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
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</h4>
|
|
</div>
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|
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<div id="mimCloningFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p><a href="#28" class="mim-tip-reference" title="Yamamoto, F., Marken, J., Tsuji, T., White, T., Clausen, H., Hakomori, S. <strong>Cloning and characterization of DNA complementary to human UDP-GalNAc:Fuc alpha 1--2Gal alpha 1--3GalNAc transferase (histo-blood group A transferase) mRNA.</strong> J. Biol. Chem. 265: 1146-1151, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2104828/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2104828</a>]" pmid="2104828">Yamamoto et al. (1990)</a> cloned and sequenced cDNA encoding the specific primary gene product that they referred to as the histo-blood group A gene (A transferase). Nucleotide sequence shows a coding region of 1,062 bp encoding a protein of 41 kD. No RFLP was found to correlate with ABO blood group type. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2104828" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
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<div>
|
|
<a id="geneStructure" class="mim-anchor"></a>
|
|
<h4 href="#mimGeneStructureFold" id="mimGeneStructureToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimGeneStructureToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
|
</span>
|
|
</h4>
|
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</div>
|
|
|
|
|
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|
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<div id="mimGeneStructureFold" class="collapse in mimTextToggleFold">
|
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<span class="mim-text-font">
|
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<p><a href="#30" class="mim-tip-reference" title="Yamamoto, F., McNeill, P. D., Hakomori, S. <strong>Genomic organization of human histo-blood group ABO genes.</strong> Glycobiology 5: 51-58, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7772867/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7772867</a>] [<a href="https://doi.org/10.1093/glycob/5.1.51" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7772867">Yamamoto et al. (1995)</a> isolated genomic DNA clones encompassing 30 kb of the ABO locus. The locations of the exons were mapped and the nucleotide sequences of the exon/intron boundaries determined. The human ABO genes consist of at least 7 exons, and the coding sequence in the 7 coding exons spans over 18 kb of genomic DNA. The exons range in size from 28 to 688 bp, with most of the coding sequence lying in exon 7. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7772867" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
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<p>In an early instance of deletion mapping, <a href="#8" class="mim-tip-reference" title="Ferguson-Smith, M. A., Aitken, D. A., Turleau, C., de Grouchy, J. <strong>Localisation of the human ABO: Np-1: AK-1 linkage group by regional assignment of AK-1 to 9q34.</strong> Hum. Genet. 34: 35-43, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/184030/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">184030</a>] [<a href="https://doi.org/10.1007/BF00284432" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="184030">Ferguson-Smith et al. (1976)</a> localized the ABO-NPS1 (<a href="/entry/161200">161200</a>)-AK1 (<a href="/entry/103000">103000</a>) linkage group to chromosome 9q34 by regional assignment of AK1 in studies of a chromosome deletion. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=184030" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Cook, P. J. L., Robson, E. B., Buckton, K. E., Slaughter, C. A., Gray, J. E., Blank, C. E., James, F. E., Ridler, M. A. C., Insley, J., Hulten, M. <strong>Segregation of ABO, AK(1) and ACONs in families with abnormalities of chromosome 9.</strong> Ann. Hum. Genet. 41: 365-378, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/204246/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">204246</a>] [<a href="https://doi.org/10.1111/j.1469-1809.1978.tb01904.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="204246">Cook et al. (1978)</a> collated evidence that ABO and AK1 lie in band 9q34. They could exclude MNSs (<a href="/entry/111300">111300</a>), GPT (<a href="/entry/138200">138200</a>), and Gc from chromosome 9. Possible linkage of DBH (<a href="/entry/609312">609312</a>) to ABO was indicated by a maximum lod score of 1.82 at 0% and 10% recombination fractions for males and females, respectively (<a href="#11" class="mim-tip-reference" title="Goldin, L. R., Gershon, E. S., Lake, C. R., Murphy, D. L., McGinniss, M., Sparkes, R. S. <strong>Segregation and linkage studies of plasma dopamine-beta-hydroxylase (DBH), erythrocyte catechol-O-methyltransferase (COMT), and platelet monoamine oxidase (MAO): possible linkage between the ABO locus and a gene controlling DBH activity.</strong> Am. J. Hum. Genet. 34: 250-262, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6951409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6951409</a>]" pmid="6951409">Goldin et al., 1982</a>). <a href="#5" class="mim-tip-reference" title="Elston, R. C., Namboodiri, K. K., Hames, C. G. <strong>Segregation and linkage analysis of dopamine-beta-hydroxylase activity.</strong> Hum. Hered. 29: 284-292, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/489028/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">489028</a>] [<a href="https://doi.org/10.1159/000153059" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="489028">Elston et al. (1979)</a> found a lod score of 2.32 at 0 recombination, to give a combined score of 2.32. <a href="#15" class="mim-tip-reference" title="Narahara, K., Takahashi, Y., Kikkawa, K., Wakita, Y., Kimura, S., Kimoto, H. <strong>Assignment of ABO locus to 9q31.3-qter by study of a family in which an intrachromosomal shift involving chromosome 9 is segregating.</strong> Jpn. J. Hum. Genet. 31: 289-296, 1986."None>Narahara et al. (1986)</a> assigned the ABO and AK1 loci to 9q31.3-qter by studies in a family with a complex chromosomal rearrangement. The order of loci on the distal portion of 9q appears to be: cen--AK1--ABL (<a href="/entry/189980">189980</a>)--ASS (<a href="/entry/603470">603470</a>)--ABO--qter. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6951409+204246+489028" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Gross, M. B. <strong>Personal Communication.</strong> Baltimore, Md. 11/17/2014."None>Gross (2014)</a> mapped the ABO gene to chromosome 9q34.2 based on an alignment of the ABO sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=BC069595" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">BC069595</a>) with the genomic sequence (GRCh38).</p>
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<a href="#28" class="mim-tip-reference" title="Yamamoto, F., Marken, J., Tsuji, T., White, T., Clausen, H., Hakomori, S. <strong>Cloning and characterization of DNA complementary to human UDP-GalNAc:Fuc alpha 1--2Gal alpha 1--3GalNAc transferase (histo-blood group A transferase) mRNA.</strong> J. Biol. Chem. 265: 1146-1151, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2104828/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2104828</a>]" pmid="2104828">Yamamoto et al. (1990)</a> detected bands in Northern hybridization of mRNAs from cell lines expressing A, B, AB, or H antigens, suggesting that sequences of ABO genes have only minimal differences and that the inability of the O gene to encode A or B transferases is probably due to a structural difference rather than to failure of expression of the A or B transferases. <a href="#27" class="mim-tip-reference" title="Yamamoto, F., Clausen, H., White, T., Marken, J., Hakomori, S. <strong>Molecular genetic basis of the histo-blood group ABO system.</strong> Nature 345: 229-233, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2333095/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2333095</a>] [<a href="https://doi.org/10.1038/345229a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2333095">Yamamoto et al. (1990)</a> showed that cells of the histo-blood group phenotype O express a message similar to that of A and B alleles. Indeed, they found that the O allele is identical in DNA sequence to the A allele, except for a single-base deletion, 258G, in the coding region close to the N terminus of the protein (<a href="#0001">110300.0001</a>). The deletion shifts the reading frame, resulting in translation of an entirely different protein. It is therefore unlikely that O individuals express a protein immunologically related to the A and B transferases, which agrees with the absence of crossreacting protein in O cells when specific monoclonal antibody directed toward soluble A transferase is used. <a href="#27" class="mim-tip-reference" title="Yamamoto, F., Clausen, H., White, T., Marken, J., Hakomori, S. <strong>Molecular genetic basis of the histo-blood group ABO system.</strong> Nature 345: 229-233, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2333095/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2333095</a>] [<a href="https://doi.org/10.1038/345229a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2333095">Yamamoto et al. (1990)</a> also reported the single-base substitutions responsible for the 4 amino acid substitutions that distinguish the A and B glycosyltransferases (see <a href="#0002">110300.0002</a>). Thus, the ABO polymorphism, discovered by <a href="#13" class="mim-tip-reference" title="Landsteiner, K. <strong>Zur Kenntnis der antifermentativen, lytischen und agglutinierenden Wirkungen des Blutserums und der Lymphe.</strong> Zbl. Bakt. 27: 357-362, 1900."None>Landsteiner (1900)</a>, was finally elucidated 90 years later. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2104828+2333095" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>As a result of further investigations of a puzzling paternity case where exclusion of the putative father was observed only in the ABO blood group, <a href="#23" class="mim-tip-reference" title="Suzuki, K., Iwata, M., Tsuji, H., Takagi, T., Tamura, A., Ishimoto, G., Ito, S., Matsui, K., Miyazaki, T. <strong>A de novo recombination in the ABO blood group gene and evidence for the occurrence of recombination products.</strong> Hum. Genet. 99: 454-461, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9099833/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9099833</a>] [<a href="https://doi.org/10.1007/s004390050388" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9099833">Suzuki et al. (1997)</a> found that the child had 1 ABO allele of hybrid nature, comprising exon 6 of the B allele and exon 7 of the O1 allele. They found other evidence that recombination events are involved in the genesis of sequence diversity of the ABO gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9099833" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Studies by <a href="#16" class="mim-tip-reference" title="Olsson, M. L., Irshaid, N. M., Hosseini-Maaf, B., Hellberg, A., Moulds, M. K., Sareneva, H., Chester, M. A. <strong>Genomic analysis of clinical samples with serologic ABO blood grouping discrepancies: identification of 15 novel A and B subgroup alleles.</strong> Blood 98: 1585-1593, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11520811/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11520811</a>] [<a href="https://doi.org/10.1182/blood.v98.5.1585" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11520811">Olsson et al. (2001)</a> of the ABO gene in persons with serologically atypical findings, including sequencing of the full coding region (exons 1-7) and 2 proposed regulatory regions of the gene, revealed 15 novel A and B subgroup alleles. These included 2 which were the first examples of mutations outside exon 7 associated with weak subgroups. Each allele was characterized by a missense or nonsense mutation for which screening by allele-specific primer PCR was performed. As a result of this study, the number of definable alleles associated with weak ABO subgroups was increased from the 14 previously published to a total of 29. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11520811" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#32" class="mim-tip-reference" title="Yip, S. P. <strong>Sequence variation at the human ABO locus.</strong> Ann. Hum. Genet. 66: 1-27, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12014997/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12014997</a>] [<a href="https://doi.org/10.1017/S0003480001008995" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12014997">Yip (2002)</a> reviewed the extensive studies of the ABO blood groups by DNA-based genotyping methods and DNA sequencing. Extensive sequence heterogeneity underlying the major ABO alleles that produce normal blood groups A, B, AB, and O had been described. There was also extensive heterogeneity underlying the molecular basis of various alleles producing ABO subgroups such as A(2), A(x), and B(3). Over 70 ABO alleles had been reported to date. <a href="#32" class="mim-tip-reference" title="Yip, S. P. <strong>Sequence variation at the human ABO locus.</strong> Ann. Hum. Genet. 66: 1-27, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12014997/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12014997</a>] [<a href="https://doi.org/10.1017/S0003480001008995" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12014997">Yip (2002)</a> proposed a unifying system of nomenclature to name these alleles. Furthermore, extensive sequence variation is found in the noncoding region of the gene, including 21 SNPs in intron 6. Excluding the common alleles, about half of the remaining alleles are due to new mutations and the other half can better be explained by intragenic recombination (both crossover and gene conversion) between common alleles. The recombination sites in hybrid alleles can be quite precisely defined through haplotype analysis of the SNPs in intron 6. This indicates that recombination is equally as important as point mutations in generating the genetic diversity of the ABO locus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12014997" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#21" class="mim-tip-reference" title="Seltsam, A., Hallensleben, M., Kollmann, A., Blasczyk, R. <strong>The nature of diversity and diversification at the ABO locus.</strong> Blood 102: 3035-3042, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12829588/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12829588</a>] [<a href="https://doi.org/10.1182/blood-2003-03-0955" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12829588">Seltsam et al. (2003)</a> stated that 83 ABO alleles discriminated at 52 polymorphic sites within the coding region of ABO had been reported up to that time. In most cases, investigators analyzed only exons 6 and 7. The study by <a href="#21" class="mim-tip-reference" title="Seltsam, A., Hallensleben, M., Kollmann, A., Blasczyk, R. <strong>The nature of diversity and diversification at the ABO locus.</strong> Blood 102: 3035-3042, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12829588/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12829588</a>] [<a href="https://doi.org/10.1182/blood-2003-03-0955" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12829588">Seltsam et al. (2003)</a> involved complete sequencing of the ABO gene (with the exception of intron 1) and 2 regulatory regions in 55 individuals. They documented 3 new mutations with coding regions and described many new mutations within introns. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12829588" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Blumenfeld, O. O. <strong>The ABO gene--more variation! (Letter)</strong> Blood 102: 2715 only, 2003."None>Blumenfeld (2003)</a>, on the basis of her blood group antigen mutation database, stated that 88 allelic variants had been documented.</p><p>Data on gene frequencies of allelic variants were tabulated by <a href="#20" class="mim-tip-reference" title="Roychoudhury, A. K., Nei, M. <strong>Human Polymorphic Genes: World Distribution.</strong> New York: Oxford Univ. Press (pub.) 1988."None>Roychoudhury and Nei (1988)</a>.</p><p><strong><em>ABO Blood Groups and Infectious Disease Susceptibility</em></strong></p><p>
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The relationship between ABO blood groups and susceptibility to a specific infectious disease is a topic of long interest to those seeking an explanation for the variations in gene frequencies around the world. Several studies (reviewed by <a href="#10" class="mim-tip-reference" title="Glass, R. I., Holmgren, J., Haley, C. E., Khan, M. R., Svennerholm, A.-M., Stoll, B. J., Belayet Hossain, K. M., Black, R. E., Yunus, M., Barua, D. <strong>Predisposition for cholera of individuals with O blood group: possible evolutionary significance.</strong> Am. J. Epidemiol. 121: 791-796, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4014172/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4014172</a>] [<a href="https://doi.org/10.1093/oxfordjournals.aje.a114050" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4014172">Glass et al., 1985</a>) indicated that individuals with blood group O are at higher risk of contracting cholera (due to Vibrio cholerae 01) than those with other blood groups and that individuals with blood group AB are relatively resistant to cholera. <a href="#3" class="mim-tip-reference" title="Clemens, J. D., Sack, D. A., Harris, J. R., Chakraborty, J., Khan, M. R., Huda, S., Ahmed, F., Gomes, J., Rao, M. R., Svennerholm, A.-M., Holmgren, J. <strong>ABO blood groups and cholera: new observations on specificity of risk and modification of vaccine efficacy.</strong> J. Infect. Dis. 159: 770-773, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2647864/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2647864</a>] [<a href="https://doi.org/10.1093/infdis/159.4.770" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2647864">Clemens et al. (1989)</a> demonstrated that individuals with blood group O are at higher risk for cholera due to only the E1 Tor biotype of V. cholerae 01. During a large field trial in Bangladesh of killed oral cholera vaccine, persons with blood group O were significantly less protected against severe cholera than were persons with AB blood group. <a href="#6" class="mim-tip-reference" title="Faruque, A. S. G., Mahalanabis, D., Hoque, S. S., Albert, M. J. <strong>The relationship between ABO blood groups and susceptibility to diarrhea due to Vibrio cholerae 0139.</strong> Clin. Infect. Dis. 18: 827-828, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8075282/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8075282</a>] [<a href="https://doi.org/10.1093/clinids/18.5.827" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8075282">Faruque et al. (1994)</a> found that patients in Bangladesh who had diarrhea due to V. cholerae 0139 were nearly twice as likely as controls to be of blood group O (64 vs 34%) and that individuals with blood group AB were at no risk for diarrhea due to V. cholerae 0139. Individuals with blood group O were the most susceptible to diarrhea due to V. cholerae 0139, followed in order by groups B, A, and AB. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8075282+2647864+4014172" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#19" class="mim-tip-reference" title="Rowe, J. A., Handel, I. G., Thera, M. A., Deans, A.-M., Lyke, K. E., Kone, A., Diallo, D. A., Raza, A., Kai, O., Marsh, K., Plowe, C. V., Doumbo, O. K., Moulds, J. M. <strong>Blood group O protects against severe Plasmodium falciparum malaria through the mechanism of reduced rosetting.</strong> Proc. Nat. Acad. Sci. 104: 17471-17476, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17959777/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17959777</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17959777[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0705390104" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17959777">Rowe et al. (2007)</a> noted that Plasmodium falciparum-induced rosetting (i.e., the spontaneous binding of infected erythrocytes to uninfected erythrocytes) is thought to contribute to the pathogenesis of severe malaria (see <a href="/entry/611162">611162</a>) by obstructing microvascular blood flow. Rosetting is reduced in blood group O erythrocytes compared with non-O blood groups, presumably due to group O individuals having disaccharide H antigens resulting from a lack of the terminal glycosyltransferases necessary to produce the trisaccharides found with A and B antigens. Rosettes that do form in group O red cells are smaller and more easily disrupted than those in group A, B, or AB red cells. <a href="#19" class="mim-tip-reference" title="Rowe, J. A., Handel, I. G., Thera, M. A., Deans, A.-M., Lyke, K. E., Kone, A., Diallo, D. A., Raza, A., Kai, O., Marsh, K., Plowe, C. V., Doumbo, O. K., Moulds, J. M. <strong>Blood group O protects against severe Plasmodium falciparum malaria through the mechanism of reduced rosetting.</strong> Proc. Nat. Acad. Sci. 104: 17471-17476, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17959777/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17959777</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17959777[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0705390104" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17959777">Rowe et al. (2007)</a> confirmed that rosetting was reduced in individuals with blood group O, intermediate in blood groups A and B, and highest in group AB. A matched case control study of 567 Malian children found that group O was present in only 21% of severe malaria cases compared with approximately 44% of uncomplicated malaria control cases and healthy controls. <a href="#19" class="mim-tip-reference" title="Rowe, J. A., Handel, I. G., Thera, M. A., Deans, A.-M., Lyke, K. E., Kone, A., Diallo, D. A., Raza, A., Kai, O., Marsh, K., Plowe, C. V., Doumbo, O. K., Moulds, J. M. <strong>Blood group O protects against severe Plasmodium falciparum malaria through the mechanism of reduced rosetting.</strong> Proc. Nat. Acad. Sci. 104: 17471-17476, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17959777/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17959777</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17959777[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0705390104" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17959777">Rowe et al. (2007)</a> concluded that group O is associated with a 66% reduction in the odds of developing severe malaria compared with non-O blood groups, and they reported preliminary evidence that similar protection is found in Kenyan children. The authors also proposed that group O does not occur at higher frequency in some malaria endemic regions due to increased susceptibility to cholera and other diarrheal diseases, resulting in balanced polymorphism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17959777" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>To examine association of ABO blood groups with susceptibility to severe malaria, <a href="#9" class="mim-tip-reference" title="Fry, A. E., Griffiths, M. J., Auburn, S., Diakite, M., Forton, J. T., Green, A., Richardson, A., Wilson, J., Jallow, M., Sisay-Joof, F., Pinder, M., Peshu, N., Williams, T. N., Marsh, K., Molyneux, M. E., Taylor, T. E., Rockett, K. A., Kwiatkowski, D. P. <strong>Common variation in the ABO glycosyltransferase is associated with susceptibility to severe Plasmodium falciparum malaria.</strong> Hum. Molec. Genet. 17: 567-576, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18003641/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18003641</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18003641[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddm331" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18003641">Fry et al. (2008)</a> performed an association study involving more than 9,000 individuals from 3 African populations. They genotyped populations from The Gambia (West Africa), Malawi (South Central Africa), and Kenya (East Africa) for 4 key functional polymorphisms in ABO: the O allele frameshift mutation affecting amino acid 176 (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs8176719;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs8176719</a>) and the 3 key A/B nonsynonymous SNPs, G235S (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs8176743;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs8176743</a>), L266M (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs8176746;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs8176746</a>), and G268R (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs8176747;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs8176747</a>). <a href="#9" class="mim-tip-reference" title="Fry, A. E., Griffiths, M. J., Auburn, S., Diakite, M., Forton, J. T., Green, A., Richardson, A., Wilson, J., Jallow, M., Sisay-Joof, F., Pinder, M., Peshu, N., Williams, T. N., Marsh, K., Molyneux, M. E., Taylor, T. E., Rockett, K. A., Kwiatkowski, D. P. <strong>Common variation in the ABO glycosyltransferase is associated with susceptibility to severe Plasmodium falciparum malaria.</strong> Hum. Molec. Genet. 17: 567-576, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18003641/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18003641</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18003641[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddm331" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18003641">Fry et al. (2008)</a> determined that there is substantial linkage disequilibrium between these SNPs; that the frameshift mutation underlying blood group O is associated with protection from severe P. falciparum malaria, particularly anemia; and that the haplotypes producing A and B antigens are associated with susceptibility to severe malaria. Family studies showed that full-length alleles of <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs8176719;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs8176719</a>, which mark the A and B or non-O haplotypes, are associated with a greater risk of severe malaria if transmitted from a mother rather than from a father. <a href="#9" class="mim-tip-reference" title="Fry, A. E., Griffiths, M. J., Auburn, S., Diakite, M., Forton, J. T., Green, A., Richardson, A., Wilson, J., Jallow, M., Sisay-Joof, F., Pinder, M., Peshu, N., Williams, T. N., Marsh, K., Molyneux, M. E., Taylor, T. E., Rockett, K. A., Kwiatkowski, D. P. <strong>Common variation in the ABO glycosyltransferase is associated with susceptibility to severe Plasmodium falciparum malaria.</strong> Hum. Molec. Genet. 17: 567-576, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18003641/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18003641</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18003641[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddm331" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18003641">Fry et al. (2008)</a> noted that half the peoples of sub-Saharan Africa, as well as other populations, are homozygotes for the null mutation resulting in blood group O and are thus protected from life-threatening malaria. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18003641" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
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<a href="#1" class="mim-tip-reference" title="Amundadottir, L., Kraft, P., Stolzenberg-Solomon, R. Z., Fuchs, C. S., Petersen, G. M., Arslan, A. A., Bueno-de-Mesquita, H. B., Gross, M., Helzlsouer, K., Jacobs, E. J., LaCroix, A., Zheng, W., and 59 others. <strong>Genome-wide association study identifies variants in the ABO locus associated with susceptibility to pancreatic cancer.</strong> Nature Genet. 41: 986-990, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19648918/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19648918</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19648918[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.429" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19648918">Amundadottir et al. (2009)</a> conducted a 2-stage genomewide association study of pancreatic cancer, genotyping over 500,000 SNPs in 1,896 individuals with pancreatic cancer and 1,939 controls drawn from 12 prospective cohorts plus 1 hospital-based case-control study. The authors conducted a combined analysis of these groups plus an additional 2,457 affected individuals and 2,654 controls from 8 case-control studies, adjusting for study, sex, ancestry, and 5 principal components. <a href="#1" class="mim-tip-reference" title="Amundadottir, L., Kraft, P., Stolzenberg-Solomon, R. Z., Fuchs, C. S., Petersen, G. M., Arslan, A. A., Bueno-de-Mesquita, H. B., Gross, M., Helzlsouer, K., Jacobs, E. J., LaCroix, A., Zheng, W., and 59 others. <strong>Genome-wide association study identifies variants in the ABO locus associated with susceptibility to pancreatic cancer.</strong> Nature Genet. 41: 986-990, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19648918/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19648918</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19648918[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.429" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19648918">Amundadottir et al. (2009)</a> identified an association between a locus on 9q34 and pancreatic cancer marked by the SNP <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs505922;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs505922</a> (combined P = 5.37 x 10(8); multiplicative per-allele odds ratio 1.20; 95% confidence interval 1.12-1.28). This SNP maps to the first intron of the ABO gene. The protective allele T of <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs505922;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs505922</a> is in complete linkage disequilibrium with the O allele of the ABO locus, consistent with earlier epidemiologic evidence suggesting that people with blood group O may have a lower risk of pancreatic cancer than those with groups A or B. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19648918" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Blood soluble E-selectin (sE-selectin; SELE, <a href="/entry/131210">131210</a>) levels have been related to various conditions, such as type-2 diabetes (see <a href="/entry/125853">125853</a>). <a href="#17" class="mim-tip-reference" title="Qi, L., Cornelis, M. C., Kraft, P., Jensen, M., van Dam, R. M., Sun, Q., Girman, C. J., Laurie, C. C., Mirel, D. B., Hunter, D. J., Rimm, E., Hu, F. B. <strong>Genetic variants in ABO blood group region, plasma soluble E-selectin levels and risk of type 2 diabetes.</strong> Hum. Molec. Genet. 19: 1856-1862, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20147318/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20147318</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20147318[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddq057" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20147318">Qi et al. (2010)</a> performed a genomewide association study among 1,005 women of European ancestry from the Nurses' Health Study and identified genomewide-significant associations between a cluster of markers at the ABO locus on chromosome 9q34 and plasma sE-selectin concentration. The strongest association was with <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs651007;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs651007</a>, which explained approximately 9.71% of the variation in sE-selectin concentrations. <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs651007;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs651007</a> was also nominally associated with soluble intracellular cell adhesion molecule-1 (sICAM1; <a href="/entry/147840">147840</a>) and TNFR2 (TNFRSF1B; <a href="/entry/191191">191191</a>) levels, independent of sE-selectin. The genetic-inferred ABO blood group genotypes were also associated with sE-selectin concentrations. The genetic-inferred blood group B was associated with a decreased risk of type 2 diabetes compared with blood group O, adjusting for sE-selectin, sICAM1, TNFR2, and other covariates. The authors concluded that the genetic variants at the ABO locus affect plasma sE-selectin levels and diabetes risk, and that the genetic associations with diabetes risk were independent of sE-selectin levels. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20147318" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=110300[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<strong>.0001 ABO BLOOD GROUP SYSTEM, O PHENOTYPE</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1556058284 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1556058284;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1556058284" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs1556058284" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p><a href="#27" class="mim-tip-reference" title="Yamamoto, F., Clausen, H., White, T., Marken, J., Hakomori, S. <strong>Molecular genetic basis of the histo-blood group ABO system.</strong> Nature 345: 229-233, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2333095/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2333095</a>] [<a href="https://doi.org/10.1038/345229a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2333095">Yamamoto et al. (1990)</a> demonstrated that the blood group O allele of the ABO system (<a href="/entry/616093">616093</a>) differs from the blood group A allele by deletion of guanine at nucleotide 258 of ABO. The deletion, occurring in the portion of the gene encoding the part near the N terminus of the protein, causes a frameshift and results in translation of an almost entirely different protein incapable of modifying the H antigen. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2333095" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs7853989 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs7853989;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs7853989?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs7853989" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs7853989" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div> <div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs8176720 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs8176720;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs8176720?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs8176720" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs8176720" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div> <div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs8176741 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs8176741;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs8176741?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs8176741" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs8176741" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div> <div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs8176743 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs8176743;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs8176743?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs8176743" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs8176743" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div> <div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs8176746 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs8176746;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs8176746?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs8176746" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs8176746" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div> <div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs8176747 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs8176747;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs8176747?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs8176747" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs8176747" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div> <div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs8176749 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs8176749;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs8176749?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs8176749" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs8176749" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000019310 OR RCV000019312 OR RCV001003444 OR RCV003315398 OR RCV003315399 OR RCV003315400 OR RCV004718119" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019310, RCV000019312, RCV001003444, RCV003315398, RCV003315399, RCV003315400, RCV004718119" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019310...</a>
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<p>Whereas ABO blood groups (<a href="/entry/616093">616093</a>) A, B, and AB in individuals express glycosyltransferase activities that convert the H antigen into A or B antigen, O(H) persons lack such activities. <a href="#27" class="mim-tip-reference" title="Yamamoto, F., Clausen, H., White, T., Marken, J., Hakomori, S. <strong>Molecular genetic basis of the histo-blood group ABO system.</strong> Nature 345: 229-233, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2333095/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2333095</a>] [<a href="https://doi.org/10.1038/345229a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2333095">Yamamoto et al. (1990)</a> found 7 nucleotide differences between the alleles that code for the A and B glycosyltransferase enzymes; 4 of the nucleotide differences were accompanied by change in amino acid residue in the transferase. The A gene had A, C, C, G, C, G, and G as nucleotides 294, 523, 654, 700, 793, 800, and 927; the B gene was found to have G, G, T, A, A, C, and A at these positions. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2333095" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 ABO BLOOD GROUP SYSTEM, A2 PHENOTYPE</strong>
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ABO, 1-BP DEL, C1059
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs56392308 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs56392308;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs56392308?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs56392308" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs56392308" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000019311 OR RCV001544501" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019311, RCV001544501" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019311...</a>
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<p><a href="#29" class="mim-tip-reference" title="Yamamoto, F., McNeill, P. D., Hakomori, S. <strong>Human histo-blood group A2 transferase coded by A2 allele, one of the A subtypes, is characterized by a single base deletion in the coding sequence, which results in an additional domain at the carboxyl terminal.</strong> Biochem. Biophys. Res. Commun. 187: 366-374, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1520322/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1520322</a>] [<a href="https://doi.org/10.1016/s0006-291x(05)81502-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1520322">Yamamoto et al. (1992)</a> demonstrated that the A2 allele, which encodes a minor subtype of A in the ABO blood group system (<a href="/entry/616093">616093</a>), has a single base deletion in a region of the ABO gene that encodes the C terminus of the protein. As a result of frameshifting, the A2 transferase possesses an extra domain. Introduction of this single base deletion into the A1 transferase cDNA expression construct drastically decreased the A transferase activity in DNA-transfected HeLa cells. The protein encoded by the A1 allele had 21 additional amino acids. The same nucleotide deletion was found in a total of 8 individuals with A2 blood type. (The single base deletion in O alleles is located close to the N terminus (see <a href="#0001">110300.0001</a>), whereas that of the A2 allele is close to the C terminus.) All 8 A1 alleles studied also showed a single base substitution (T in A2 and C in A1 at nucleotide position 467 counting from the A residue of the initiation codon) resulting in an amino acid difference (leucine in A2 transferase and proline in A1 transferase at amino acid position 156). Based on the observed expression of chimeric cDNAs in transfected HeLa cells, the amino acid substitution was shown to be incapable of drastically altering enzymatic activity or sugar-nucleotide donor specificity. The single nucleotide deletion occurred in a stretch of 3 Cs in nucleotide positions 1059-1061 of the A1 allele. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1520322" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 ABO BLOOD GROUP SYSTEM, CIS-AB PHENOTYPE</strong>
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ABO, PRO156LEU, GLY268ALA
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs1053878 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1053878;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs1053878?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1053878" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs1053878" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div> <div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs8176747 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs8176747;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs8176747?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs8176747" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs8176747" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000019310 OR RCV000019312 OR RCV001003444 OR RCV001544501 OR RCV003315398 OR RCV003315399 OR RCV003315400 OR RCV004718119" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019310, RCV000019312, RCV001003444, RCV001544501, RCV003315398, RCV003315399, RCV003315400, RCV004718119" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019310...</a>
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<p><a href="#22" class="mim-tip-reference" title="Seyfried, H., Walewska, I., Werblinska, B. <strong>Unusual inheritance of ABO group in a family with weak B antigens.</strong> Vox Sang. 9: 268-277, 1964.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14170898/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14170898</a>] [<a href="https://doi.org/10.1111/j.1423-0410.1964.tb02616.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14170898">Seyfried et al. (1964)</a> and Yamaguchi et al. (<a href="#26" class="mim-tip-reference" title="Yamaguchi, H., Okubo, Y., Hazama, F. <strong>An A(2)B(3) phenotype blood showing atypical mode of inheritance.</strong> Proc. Jpn. Acad. 41: 316-320, 1965."None>1965</a>, <a href="#25" class="mim-tip-reference" title="Yamaguchi, H., Okubo, Y., Hazama, F. <strong>Another Japanese A(2)B(3) blood-group family with the propositus having O-group father.</strong> Proc. Jpn. Acad. 42: 517-520, 1966."None>1966</a>) described instances in which blood group O of the ABO system (<a href="/entry/616093">616093</a>) was inherited from 1 parent and both blood group A and blood group B from the other parent. This was referred to as cis-AB to discriminate this rare phenotype from ordinary trans-AB. <a href="#33" class="mim-tip-reference" title="Yoshida, A., Yamaguchi, H., Okubo, Y. <strong>Genetic mechanism of cis-AB inheritance. II. Cases associated with structural mutation of blood group glycosyltransferase.</strong> Am. J. Hum. Genet. 32: 645-650, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6775529/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6775529</a>]" pmid="6775529">Yoshida et al. (1980)</a> reported 2 possible genetic mechanisms: unequal chromosomal crossing over and structural mutation in the blood group glycosyltransferase. In the latter instance, mutation in either the A or the B gene had produced a single abnormal enzyme with bifunctional activity. <a href="#31" class="mim-tip-reference" title="Yamamoto, F., McNeill, P. D., Kominato, Y., Yamamoto, M., Hakomori, S., Ishimoto, S., Nishida, S., Shima, M., Fujimura, Y. <strong>Molecular genetic analysis of the ABO blood group system. 2. cis-AB alleles.</strong> Vox Sang. 64: 120-123, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8456556/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8456556</a>] [<a href="https://doi.org/10.1111/j.1423-0410.1993.tb02529.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8456556">Yamamoto et al. (1993)</a> determined the nucleotide sequence of the coding region in the last 2 exons of the ABO genes from 2 unrelated cis-AB individuals of the genotype cis-AB/O. They found that the cis-AB alleles were identical to one another while different from the A1 allele by 2 nucleotide substitutions. Both of these substitutions resulted in amino acid replacements. The first substitution was identical to the one previously found in the A2 allele, i.e., a C-to-T transition at nucleotide 467 resulting in the amino acid substitution pro156-to-leu. The other substitution was found at the fourth position of the 4 amino acid substitutions that discriminate A1 and B transferases, i.e., a G-to-C transversion at nucleotide 803 resulting in a gly268-to-ala amino acid substitution. The 2 patients in the study were Japanese; judging from the report, the cis-AB phenotype may be more common in Japanese than in others. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6775529+8456556+14170898" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 ABO BLOOD GROUP SYSTEM, B(A) PHENOTYPE</strong>
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ABO, PRO234ALA
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs55722397 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs55722397;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs55722397?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs55722397" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs55722397" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000019313" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019313" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019313</a>
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<p>In 3 members of a family with the B(A) blood group phenotype of the ABO system (<a href="/entry/616093">616093</a>), <a href="#34" class="mim-tip-reference" title="Yu, L.-C., Lee, H.-L., Chan, Y.-S., Lin, M. <strong>The molecular basis for the B(A) allele: an amino acid alteration in the human histoblood group B alpha-(1,3)-galactosyltransferase increases its intrinsic alpha-(1,3)-N-acetylgalactosaminyltransferase activity.</strong> Biochem. Biophys. Res. Commun. 262: 487-493, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10462501/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10462501</a>] [<a href="https://doi.org/10.1006/bbrc.1999.1246" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10462501">Yu et al. (1999)</a> identified a 700C-G transversion in the gene encoding the B transferase, resulting in a pro234-to-ala (P234A) substitution. The substitution occurs just ahead of the second of 4 amino acid residues that differentiate the specificities of the A and B transferases. Functional expression studies showed that the P234A substitution resulted in lower transferase B activity than wildtype, which correlated with the observation of a smaller amount of B antigen on the individuals' B(A) red cells. The substitution also resulted in higher transferase A activity compared to the minute amount of transferase A activity present in wildtype group B sera. <a href="#34" class="mim-tip-reference" title="Yu, L.-C., Lee, H.-L., Chan, Y.-S., Lin, M. <strong>The molecular basis for the B(A) allele: an amino acid alteration in the human histoblood group B alpha-(1,3)-galactosyltransferase increases its intrinsic alpha-(1,3)-N-acetylgalactosaminyltransferase activity.</strong> Biochem. Biophys. Res. Commun. 262: 487-493, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10462501/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10462501</a>] [<a href="https://doi.org/10.1006/bbrc.1999.1246" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10462501">Yu et al. (1999)</a> concluded that the B(A) phenotype in this family was due to shifting of the specificity of transferase B rather than to enhanced transferase B activity. The findings showed that not only the 4 critical residues but also neighboring areas may influence the specificity of the A and B transferases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10462501" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>See Also:</strong>
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<a href="#Ferguson-Smith1978" class="mim-tip-reference" title="Ferguson-Smith, M. A., Aitken, D. A. <strong>Gene dosage: further information on the regional position of the ABO:Np:AK-1 linkage group on chromosome 9.</strong> Cytogenet. Cell Genet. 22: 449-451, 1978.">Ferguson-Smith and Aitken (1978)</a>; <a href="#Lewis1978" class="mim-tip-reference" title="Lewis, M., Kaita, H., Giblett, E. R., Anderson, J. E. <strong>Genetic linkage analyses of chromosome 9 loci ABO and AK-1.</strong> Cytogenet. Cell Genet. 22: 452-455, 1978.">Lewis et al. (1978)</a>; <a href="#Robson1977" class="mim-tip-reference" title="Robson, E. B., Cook, P. J. L., Buckton, K. E. <strong>Family studies with the chromosome 9 markers ABO, AK-1, ACON-S and 9qh.</strong> Ann. Hum. Genet. 41: 53-60, 1977.">Robson et al.
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(1977)</a>; <a href="#Westerveld1976" class="mim-tip-reference" title="Westerveld, A., Jongsma, A. P. M., Meera Khan, P., Van Someren, H., Bootsma, D. <strong>Assignment of the AK(1): Np: ABO linkage group to human chromosome 9.</strong> Proc. Nat. Acad. Sci. 73: 895-899, 1976.">Westerveld et al. (1976)</a>
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<strong>REFERENCES</strong>
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Amundadottir, L., Kraft, P., Stolzenberg-Solomon, R. Z., Fuchs, C. S., Petersen, G. M., Arslan, A. A., Bueno-de-Mesquita, H. B., Gross, M., Helzlsouer, K., Jacobs, E. J., LaCroix, A., Zheng, W., and 59 others.
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<strong>Genome-wide association study identifies variants in the ABO locus associated with susceptibility to pancreatic cancer.</strong>
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Nature Genet. 41: 986-990, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19648918/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19648918</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19648918[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19648918" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng.429" target="_blank">Full Text</a>]
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Blumenfeld, O. O.
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<strong>The ABO gene--more variation! (Letter)</strong>
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Blood 102: 2715 only, 2003.
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Clemens, J. D., Sack, D. A., Harris, J. R., Chakraborty, J., Khan, M. R., Huda, S., Ahmed, F., Gomes, J., Rao, M. R., Svennerholm, A.-M., Holmgren, J.
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<strong>ABO blood groups and cholera: new observations on specificity of risk and modification of vaccine efficacy.</strong>
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J. Infect. Dis. 159: 770-773, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2647864/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2647864</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2647864" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/infdis/159.4.770" target="_blank">Full Text</a>]
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Cook, P. J. L., Robson, E. B., Buckton, K. E., Slaughter, C. A., Gray, J. E., Blank, C. E., James, F. E., Ridler, M. A. C., Insley, J., Hulten, M.
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<strong>Segregation of ABO, AK(1) and ACONs in families with abnormalities of chromosome 9.</strong>
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Ann. Hum. Genet. 41: 365-378, 1978.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/204246/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">204246</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=204246" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1469-1809.1978.tb01904.x" target="_blank">Full Text</a>]
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Elston, R. C., Namboodiri, K. K., Hames, C. G.
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<strong>Segregation and linkage analysis of dopamine-beta-hydroxylase activity.</strong>
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Hum. Hered. 29: 284-292, 1979.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/489028/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">489028</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=489028" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1159/000153059" target="_blank">Full Text</a>]
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Faruque, A. S. G., Mahalanabis, D., Hoque, S. S., Albert, M. J.
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<strong>The relationship between ABO blood groups and susceptibility to diarrhea due to Vibrio cholerae 0139.</strong>
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Clin. Infect. Dis. 18: 827-828, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8075282/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8075282</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8075282" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/clinids/18.5.827" target="_blank">Full Text</a>]
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Ferguson-Smith, M. A., Aitken, D. A.
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<strong>Gene dosage: further information on the regional position of the ABO:Np:AK-1 linkage group on chromosome 9.</strong>
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Cytogenet. Cell Genet. 22: 449-451, 1978.
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Ferguson-Smith, M. A., Aitken, D. A., Turleau, C., de Grouchy, J.
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<strong>Localisation of the human ABO: Np-1: AK-1 linkage group by regional assignment of AK-1 to 9q34.</strong>
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Hum. Genet. 34: 35-43, 1976.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/184030/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">184030</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=184030" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF00284432" target="_blank">Full Text</a>]
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Fry, A. E., Griffiths, M. J., Auburn, S., Diakite, M., Forton, J. T., Green, A., Richardson, A., Wilson, J., Jallow, M., Sisay-Joof, F., Pinder, M., Peshu, N., Williams, T. N., Marsh, K., Molyneux, M. E., Taylor, T. E., Rockett, K. A., Kwiatkowski, D. P.
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<strong>Common variation in the ABO glycosyltransferase is associated with susceptibility to severe Plasmodium falciparum malaria.</strong>
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Hum. Molec. Genet. 17: 567-576, 2008.
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<a id="Yamamoto1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Yamamoto, F., McNeill, P. D., Hakomori, S.
|
|
<strong>Human histo-blood group A2 transferase coded by A2 allele, one of the A subtypes, is characterized by a single base deletion in the coding sequence, which results in an additional domain at the carboxyl terminal.</strong>
|
|
Biochem. Biophys. Res. Commun. 187: 366-374, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1520322/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1520322</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1520322" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
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[<a href="https://doi.org/10.1016/s0006-291x(05)81502-5" target="_blank">Full Text</a>]
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|
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</p>
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</div>
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</li>
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<li>
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<a id="30" class="mim-anchor"></a>
|
|
<a id="Yamamoto1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Yamamoto, F., McNeill, P. D., Hakomori, S.
|
|
<strong>Genomic organization of human histo-blood group ABO genes.</strong>
|
|
Glycobiology 5: 51-58, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7772867/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7772867</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7772867" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/glycob/5.1.51" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="31" class="mim-anchor"></a>
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<a id="Yamamoto1993" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
|
Yamamoto, F., McNeill, P. D., Kominato, Y., Yamamoto, M., Hakomori, S., Ishimoto, S., Nishida, S., Shima, M., Fujimura, Y.
|
|
<strong>Molecular genetic analysis of the ABO blood group system. 2. cis-AB alleles.</strong>
|
|
Vox Sang. 64: 120-123, 1993.
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|
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|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8456556/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8456556</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8456556" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1423-0410.1993.tb02529.x" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="32" class="mim-anchor"></a>
|
|
<a id="Yip2002" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Yip, S. P.
|
|
<strong>Sequence variation at the human ABO locus.</strong>
|
|
Ann. Hum. Genet. 66: 1-27, 2002.
|
|
|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12014997/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12014997</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12014997" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1017/S0003480001008995" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="33" class="mim-anchor"></a>
|
|
<a id="Yoshida1980" class="mim-anchor"></a>
|
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<div class="">
|
|
<p class="mim-text-font">
|
|
Yoshida, A., Yamaguchi, H., Okubo, Y.
|
|
<strong>Genetic mechanism of cis-AB inheritance. II. Cases associated with structural mutation of blood group glycosyltransferase.</strong>
|
|
Am. J. Hum. Genet. 32: 645-650, 1980.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6775529/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6775529</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6775529" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="34" class="mim-anchor"></a>
|
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<a id="Yu1999" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
|
|
Yu, L.-C., Lee, H.-L., Chan, Y.-S., Lin, M.
|
|
<strong>The molecular basis for the B(A) allele: an amino acid alteration in the human histoblood group B alpha-(1,3)-galactosyltransferase increases its intrinsic alpha-(1,3)-N-acetylgalactosaminyltransferase activity.</strong>
|
|
Biochem. Biophys. Res. Commun. 262: 487-493, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10462501/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10462501</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10462501" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/bbrc.1999.1246" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
|
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
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<span class="mim-text-font">
|
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
|
|
</span>
|
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</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Matthew B. Gross - updated : 11/18/2014
|
|
</span>
|
|
</div>
|
|
</div>
|
|
<div class="row collapse" id="mimCollapseContributors">
|
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
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George E. Tiller - updated : 12/6/2011<br>Paul J. Converse - updated : 7/29/2010<br>Ada Hamosh - updated : 11/10/2009<br>Paul J. Converse - updated : 8/18/2008<br>Cassandra L. Kniffin - updated : 10/17/2005<br>Victor A. McKusick - updated : 1/15/2004<br>Victor A. McKusick - updated : 10/10/2003<br>Victor A. McKusick - updated : 7/1/2002<br>Victor A. McKusick - updated : 11/5/2001<br>Victor A. McKusick - updated : 6/16/1997<br>Victor A. McKusick - updated : 5/16/1997
|
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
|
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<div class="row">
|
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
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<span class="text-nowrap mim-text-font">
|
|
Creation Date:
|
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</span>
|
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</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
|
Victor A. McKusick : 6/4/1986
|
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</span>
|
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
|
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
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<span class="text-nowrap mim-text-font">
|
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
|
|
</span>
|
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</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
|
mgross : 11/18/2014
|
|
</span>
|
|
</div>
|
|
</div>
|
|
<div class="row collapse" id="mimCollapseEditHistory">
|
|
<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
mgross : 11/18/2014<br>alopez : 12/6/2011<br>alopez : 7/29/2010<br>alopez : 11/12/2009<br>terry : 11/10/2009<br>carol : 3/31/2009<br>mgross : 8/21/2008<br>mgross : 8/21/2008<br>terry : 8/18/2008<br>terry : 2/7/2006<br>wwang : 10/26/2005<br>ckniffin : 10/17/2005<br>joanna : 3/19/2004<br>joanna : 3/19/2004<br>cwells : 1/21/2004<br>terry : 1/15/2004<br>tkritzer : 10/21/2003<br>terry : 10/10/2003<br>cwells : 7/30/2002<br>terry : 7/1/2002<br>carol : 11/8/2001<br>mcapotos : 11/5/2001<br>carol : 5/22/2000<br>carol : 5/18/1999<br>alopez : 5/8/1998<br>alopez : 6/16/1997<br>mark : 5/19/1997<br>terry : 5/16/1997<br>mark : 5/13/1997<br>mark : 12/29/1996<br>terry : 6/20/1996<br>terry : 6/18/1996<br>mark : 6/27/1995<br>jason : 7/1/1994<br>davew : 6/9/1994<br>warfield : 4/6/1994<br>mimadm : 2/11/1994<br>carol : 9/27/1993
|
|
</span>
|
|
</div>
|
|
</div>
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</div>
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</div>
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</div>
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</div>
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|
|
|
<div class="container visible-print-block">
|
|
|
|
<div class="row">
|
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|
|
|
|
<div class="col-md-8 col-md-offset-1">
|
|
|
|
<div>
|
|
<div>
|
|
<h3>
|
|
<span class="mim-font">
|
|
<strong>*</strong> 110300
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
|
|
<div>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
ABO GLYCOSYLTRANSFERASE; ABO
|
|
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div >
|
|
<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
ABO HISTO-BLOOD GROUP GLYCOSYLTRANSFERASES
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<p>
|
|
<span class="mim-font">
|
|
Other entities represented in this entry:
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<span class="h3 mim-font">
|
|
TRANSFERASE A, ALPHA 1-3-N-ACETYLGALACTOSAMINYLTRANSFERASE, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
<div>
|
|
<span class="h4 mim-font">
|
|
|
|
TRANSFERASE B, ALPHA 1-3-GALACTOSYLTRANSFERASE, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
|
|
|
|
|
<div>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: ABO</em></strong>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
|
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<div>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: 9q34.2
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 9:133,250,401-133,275,201 </span>
|
|
</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
9q34.2
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
[Blood group, ABO system]
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
616093
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
</tr>
|
|
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>The ABO gene encodes a glycosyltransferase that catalyzes the transfer of carbohydrates to the H antigen (FUT1; 211100), forming the antigenic structures of the ABO blood group (616093). The proteins encoded by the A and B alleles of ABO differ minimally in amino acid sequence but catalyze the transfer of different carbohydrates (N-acetylgalactosamine or galactose) onto the H antigen to form the A or B antigens. Individuals with the O blood group do not produce either the A or B antigens because of a single-base deletion (summary by Amundadottir et al., 2009). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Yamamoto et al. (1990) cloned and sequenced cDNA encoding the specific primary gene product that they referred to as the histo-blood group A gene (A transferase). Nucleotide sequence shows a coding region of 1,062 bp encoding a protein of 41 kD. No RFLP was found to correlate with ABO blood group type. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Yamamoto et al. (1995) isolated genomic DNA clones encompassing 30 kb of the ABO locus. The locations of the exons were mapped and the nucleotide sequences of the exon/intron boundaries determined. The human ABO genes consist of at least 7 exons, and the coding sequence in the 7 coding exons spans over 18 kb of genomic DNA. The exons range in size from 28 to 688 bp, with most of the coding sequence lying in exon 7. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
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<p>In an early instance of deletion mapping, Ferguson-Smith et al. (1976) localized the ABO-NPS1 (161200)-AK1 (103000) linkage group to chromosome 9q34 by regional assignment of AK1 in studies of a chromosome deletion. </p><p>Cook et al. (1978) collated evidence that ABO and AK1 lie in band 9q34. They could exclude MNSs (111300), GPT (138200), and Gc from chromosome 9. Possible linkage of DBH (609312) to ABO was indicated by a maximum lod score of 1.82 at 0% and 10% recombination fractions for males and females, respectively (Goldin et al., 1982). Elston et al. (1979) found a lod score of 2.32 at 0 recombination, to give a combined score of 2.32. Narahara et al. (1986) assigned the ABO and AK1 loci to 9q31.3-qter by studies in a family with a complex chromosomal rearrangement. The order of loci on the distal portion of 9q appears to be: cen--AK1--ABL (189980)--ASS (603470)--ABO--qter. </p><p>Gross (2014) mapped the ABO gene to chromosome 9q34.2 based on an alignment of the ABO sequence (GenBank BC069595) with the genomic sequence (GRCh38).</p>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p><strong><em>ABO Blood Group System</em></strong></p><p>
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Yamamoto et al. (1990) detected bands in Northern hybridization of mRNAs from cell lines expressing A, B, AB, or H antigens, suggesting that sequences of ABO genes have only minimal differences and that the inability of the O gene to encode A or B transferases is probably due to a structural difference rather than to failure of expression of the A or B transferases. Yamamoto et al. (1990) showed that cells of the histo-blood group phenotype O express a message similar to that of A and B alleles. Indeed, they found that the O allele is identical in DNA sequence to the A allele, except for a single-base deletion, 258G, in the coding region close to the N terminus of the protein (110300.0001). The deletion shifts the reading frame, resulting in translation of an entirely different protein. It is therefore unlikely that O individuals express a protein immunologically related to the A and B transferases, which agrees with the absence of crossreacting protein in O cells when specific monoclonal antibody directed toward soluble A transferase is used. Yamamoto et al. (1990) also reported the single-base substitutions responsible for the 4 amino acid substitutions that distinguish the A and B glycosyltransferases (see 110300.0002). Thus, the ABO polymorphism, discovered by Landsteiner (1900), was finally elucidated 90 years later. </p><p>As a result of further investigations of a puzzling paternity case where exclusion of the putative father was observed only in the ABO blood group, Suzuki et al. (1997) found that the child had 1 ABO allele of hybrid nature, comprising exon 6 of the B allele and exon 7 of the O1 allele. They found other evidence that recombination events are involved in the genesis of sequence diversity of the ABO gene. </p><p>Studies by Olsson et al. (2001) of the ABO gene in persons with serologically atypical findings, including sequencing of the full coding region (exons 1-7) and 2 proposed regulatory regions of the gene, revealed 15 novel A and B subgroup alleles. These included 2 which were the first examples of mutations outside exon 7 associated with weak subgroups. Each allele was characterized by a missense or nonsense mutation for which screening by allele-specific primer PCR was performed. As a result of this study, the number of definable alleles associated with weak ABO subgroups was increased from the 14 previously published to a total of 29. </p><p>Yip (2002) reviewed the extensive studies of the ABO blood groups by DNA-based genotyping methods and DNA sequencing. Extensive sequence heterogeneity underlying the major ABO alleles that produce normal blood groups A, B, AB, and O had been described. There was also extensive heterogeneity underlying the molecular basis of various alleles producing ABO subgroups such as A(2), A(x), and B(3). Over 70 ABO alleles had been reported to date. Yip (2002) proposed a unifying system of nomenclature to name these alleles. Furthermore, extensive sequence variation is found in the noncoding region of the gene, including 21 SNPs in intron 6. Excluding the common alleles, about half of the remaining alleles are due to new mutations and the other half can better be explained by intragenic recombination (both crossover and gene conversion) between common alleles. The recombination sites in hybrid alleles can be quite precisely defined through haplotype analysis of the SNPs in intron 6. This indicates that recombination is equally as important as point mutations in generating the genetic diversity of the ABO locus. </p><p>Seltsam et al. (2003) stated that 83 ABO alleles discriminated at 52 polymorphic sites within the coding region of ABO had been reported up to that time. In most cases, investigators analyzed only exons 6 and 7. The study by Seltsam et al. (2003) involved complete sequencing of the ABO gene (with the exception of intron 1) and 2 regulatory regions in 55 individuals. They documented 3 new mutations with coding regions and described many new mutations within introns. </p><p>Blumenfeld (2003), on the basis of her blood group antigen mutation database, stated that 88 allelic variants had been documented.</p><p>Data on gene frequencies of allelic variants were tabulated by Roychoudhury and Nei (1988).</p><p><strong><em>ABO Blood Groups and Infectious Disease Susceptibility</em></strong></p><p>
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The relationship between ABO blood groups and susceptibility to a specific infectious disease is a topic of long interest to those seeking an explanation for the variations in gene frequencies around the world. Several studies (reviewed by Glass et al., 1985) indicated that individuals with blood group O are at higher risk of contracting cholera (due to Vibrio cholerae 01) than those with other blood groups and that individuals with blood group AB are relatively resistant to cholera. Clemens et al. (1989) demonstrated that individuals with blood group O are at higher risk for cholera due to only the E1 Tor biotype of V. cholerae 01. During a large field trial in Bangladesh of killed oral cholera vaccine, persons with blood group O were significantly less protected against severe cholera than were persons with AB blood group. Faruque et al. (1994) found that patients in Bangladesh who had diarrhea due to V. cholerae 0139 were nearly twice as likely as controls to be of blood group O (64 vs 34%) and that individuals with blood group AB were at no risk for diarrhea due to V. cholerae 0139. Individuals with blood group O were the most susceptible to diarrhea due to V. cholerae 0139, followed in order by groups B, A, and AB. </p><p>Rowe et al. (2007) noted that Plasmodium falciparum-induced rosetting (i.e., the spontaneous binding of infected erythrocytes to uninfected erythrocytes) is thought to contribute to the pathogenesis of severe malaria (see 611162) by obstructing microvascular blood flow. Rosetting is reduced in blood group O erythrocytes compared with non-O blood groups, presumably due to group O individuals having disaccharide H antigens resulting from a lack of the terminal glycosyltransferases necessary to produce the trisaccharides found with A and B antigens. Rosettes that do form in group O red cells are smaller and more easily disrupted than those in group A, B, or AB red cells. Rowe et al. (2007) confirmed that rosetting was reduced in individuals with blood group O, intermediate in blood groups A and B, and highest in group AB. A matched case control study of 567 Malian children found that group O was present in only 21% of severe malaria cases compared with approximately 44% of uncomplicated malaria control cases and healthy controls. Rowe et al. (2007) concluded that group O is associated with a 66% reduction in the odds of developing severe malaria compared with non-O blood groups, and they reported preliminary evidence that similar protection is found in Kenyan children. The authors also proposed that group O does not occur at higher frequency in some malaria endemic regions due to increased susceptibility to cholera and other diarrheal diseases, resulting in balanced polymorphism. </p><p>To examine association of ABO blood groups with susceptibility to severe malaria, Fry et al. (2008) performed an association study involving more than 9,000 individuals from 3 African populations. They genotyped populations from The Gambia (West Africa), Malawi (South Central Africa), and Kenya (East Africa) for 4 key functional polymorphisms in ABO: the O allele frameshift mutation affecting amino acid 176 (rs8176719) and the 3 key A/B nonsynonymous SNPs, G235S (rs8176743), L266M (rs8176746), and G268R (rs8176747). Fry et al. (2008) determined that there is substantial linkage disequilibrium between these SNPs; that the frameshift mutation underlying blood group O is associated with protection from severe P. falciparum malaria, particularly anemia; and that the haplotypes producing A and B antigens are associated with susceptibility to severe malaria. Family studies showed that full-length alleles of rs8176719, which mark the A and B or non-O haplotypes, are associated with a greater risk of severe malaria if transmitted from a mother rather than from a father. Fry et al. (2008) noted that half the peoples of sub-Saharan Africa, as well as other populations, are homozygotes for the null mutation resulting in blood group O and are thus protected from life-threatening malaria. </p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
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Amundadottir et al. (2009) conducted a 2-stage genomewide association study of pancreatic cancer, genotyping over 500,000 SNPs in 1,896 individuals with pancreatic cancer and 1,939 controls drawn from 12 prospective cohorts plus 1 hospital-based case-control study. The authors conducted a combined analysis of these groups plus an additional 2,457 affected individuals and 2,654 controls from 8 case-control studies, adjusting for study, sex, ancestry, and 5 principal components. Amundadottir et al. (2009) identified an association between a locus on 9q34 and pancreatic cancer marked by the SNP rs505922 (combined P = 5.37 x 10(8); multiplicative per-allele odds ratio 1.20; 95% confidence interval 1.12-1.28). This SNP maps to the first intron of the ABO gene. The protective allele T of rs505922 is in complete linkage disequilibrium with the O allele of the ABO locus, consistent with earlier epidemiologic evidence suggesting that people with blood group O may have a lower risk of pancreatic cancer than those with groups A or B. </p><p>Blood soluble E-selectin (sE-selectin; SELE, 131210) levels have been related to various conditions, such as type-2 diabetes (see 125853). Qi et al. (2010) performed a genomewide association study among 1,005 women of European ancestry from the Nurses' Health Study and identified genomewide-significant associations between a cluster of markers at the ABO locus on chromosome 9q34 and plasma sE-selectin concentration. The strongest association was with rs651007, which explained approximately 9.71% of the variation in sE-selectin concentrations. rs651007 was also nominally associated with soluble intracellular cell adhesion molecule-1 (sICAM1; 147840) and TNFR2 (TNFRSF1B; 191191) levels, independent of sE-selectin. The genetic-inferred ABO blood group genotypes were also associated with sE-selectin concentrations. The genetic-inferred blood group B was associated with a decreased risk of type 2 diabetes compared with blood group O, adjusting for sE-selectin, sICAM1, TNFR2, and other covariates. The authors concluded that the genetic variants at the ABO locus affect plasma sE-selectin levels and diabetes risk, and that the genetic associations with diabetes risk were independent of sE-selectin levels. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>5 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 ABO BLOOD GROUP SYSTEM, O PHENOTYPE</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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ABO, 1-BP DEL, 258G
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<br />
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SNP: rs1556058284,
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ClinVar: RCV000019309, RCV000948180
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>Yamamoto et al. (1990) demonstrated that the blood group O allele of the ABO system (616093) differs from the blood group A allele by deletion of guanine at nucleotide 258 of ABO. The deletion, occurring in the portion of the gene encoding the part near the N terminus of the protein, causes a frameshift and results in translation of an almost entirely different protein incapable of modifying the H antigen. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 ABO BLOOD GROUP SYSTEM, A/B POLYMORPHISM</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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ABO, 7 NUCLEOTIDE SUBSTITUTIONS
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<br />
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SNP: rs7853989, rs8176720, rs8176741, rs8176743, rs8176746, rs8176747, rs8176749,
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gnomAD: rs7853989, rs8176720, rs8176741, rs8176743, rs8176746, rs8176747, rs8176749,
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ClinVar: RCV000019310, RCV000019312, RCV001003444, RCV003315398, RCV003315399, RCV003315400, RCV004718119
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</span>
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<div>
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<span class="mim-text-font">
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<p>Whereas ABO blood groups (616093) A, B, and AB in individuals express glycosyltransferase activities that convert the H antigen into A or B antigen, O(H) persons lack such activities. Yamamoto et al. (1990) found 7 nucleotide differences between the alleles that code for the A and B glycosyltransferase enzymes; 4 of the nucleotide differences were accompanied by change in amino acid residue in the transferase. The A gene had A, C, C, G, C, G, and G as nucleotides 294, 523, 654, 700, 793, 800, and 927; the B gene was found to have G, G, T, A, A, C, and A at these positions. </p>
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</span>
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<div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 ABO BLOOD GROUP SYSTEM, A2 PHENOTYPE</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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ABO, 1-BP DEL, C1059
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<br />
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SNP: rs56392308,
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gnomAD: rs56392308,
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ClinVar: RCV000019311, RCV001544501
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</span>
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<div>
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<span class="mim-text-font">
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<p>Yamamoto et al. (1992) demonstrated that the A2 allele, which encodes a minor subtype of A in the ABO blood group system (616093), has a single base deletion in a region of the ABO gene that encodes the C terminus of the protein. As a result of frameshifting, the A2 transferase possesses an extra domain. Introduction of this single base deletion into the A1 transferase cDNA expression construct drastically decreased the A transferase activity in DNA-transfected HeLa cells. The protein encoded by the A1 allele had 21 additional amino acids. The same nucleotide deletion was found in a total of 8 individuals with A2 blood type. (The single base deletion in O alleles is located close to the N terminus (see 110300.0001), whereas that of the A2 allele is close to the C terminus.) All 8 A1 alleles studied also showed a single base substitution (T in A2 and C in A1 at nucleotide position 467 counting from the A residue of the initiation codon) resulting in an amino acid difference (leucine in A2 transferase and proline in A1 transferase at amino acid position 156). Based on the observed expression of chimeric cDNAs in transfected HeLa cells, the amino acid substitution was shown to be incapable of drastically altering enzymatic activity or sugar-nucleotide donor specificity. The single nucleotide deletion occurred in a stretch of 3 Cs in nucleotide positions 1059-1061 of the A1 allele. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 ABO BLOOD GROUP SYSTEM, CIS-AB PHENOTYPE</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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ABO, PRO156LEU, GLY268ALA
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<br />
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SNP: rs1053878, rs8176747,
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gnomAD: rs1053878, rs8176747,
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ClinVar: RCV000019310, RCV000019312, RCV001003444, RCV001544501, RCV003315398, RCV003315399, RCV003315400, RCV004718119
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>Seyfried et al. (1964) and Yamaguchi et al. (1965, 1966) described instances in which blood group O of the ABO system (616093) was inherited from 1 parent and both blood group A and blood group B from the other parent. This was referred to as cis-AB to discriminate this rare phenotype from ordinary trans-AB. Yoshida et al. (1980) reported 2 possible genetic mechanisms: unequal chromosomal crossing over and structural mutation in the blood group glycosyltransferase. In the latter instance, mutation in either the A or the B gene had produced a single abnormal enzyme with bifunctional activity. Yamamoto et al. (1993) determined the nucleotide sequence of the coding region in the last 2 exons of the ABO genes from 2 unrelated cis-AB individuals of the genotype cis-AB/O. They found that the cis-AB alleles were identical to one another while different from the A1 allele by 2 nucleotide substitutions. Both of these substitutions resulted in amino acid replacements. The first substitution was identical to the one previously found in the A2 allele, i.e., a C-to-T transition at nucleotide 467 resulting in the amino acid substitution pro156-to-leu. The other substitution was found at the fourth position of the 4 amino acid substitutions that discriminate A1 and B transferases, i.e., a G-to-C transversion at nucleotide 803 resulting in a gly268-to-ala amino acid substitution. The 2 patients in the study were Japanese; judging from the report, the cis-AB phenotype may be more common in Japanese than in others. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0005 ABO BLOOD GROUP SYSTEM, B(A) PHENOTYPE</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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ABO, PRO234ALA
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<br />
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SNP: rs55722397,
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gnomAD: rs55722397,
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ClinVar: RCV000019313
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 3 members of a family with the B(A) blood group phenotype of the ABO system (616093), Yu et al. (1999) identified a 700C-G transversion in the gene encoding the B transferase, resulting in a pro234-to-ala (P234A) substitution. The substitution occurs just ahead of the second of 4 amino acid residues that differentiate the specificities of the A and B transferases. Functional expression studies showed that the P234A substitution resulted in lower transferase B activity than wildtype, which correlated with the observation of a smaller amount of B antigen on the individuals' B(A) red cells. The substitution also resulted in higher transferase A activity compared to the minute amount of transferase A activity present in wildtype group B sera. Yu et al. (1999) concluded that the B(A) phenotype in this family was due to shifting of the specificity of transferase B rather than to enhanced transferase B activity. The findings showed that not only the 4 critical residues but also neighboring areas may influence the specificity of the A and B transferases. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Ferguson-Smith and Aitken (1978); Lewis et al. (1978); Robson et al.
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(1977); Westerveld et al. (1976)
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Amundadottir, L., Kraft, P., Stolzenberg-Solomon, R. Z., Fuchs, C. S., Petersen, G. M., Arslan, A. A., Bueno-de-Mesquita, H. B., Gross, M., Helzlsouer, K., Jacobs, E. J., LaCroix, A., Zheng, W., and 59 others.
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<strong>Genome-wide association study identifies variants in the ABO locus associated with susceptibility to pancreatic cancer.</strong>
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Nature Genet. 41: 986-990, 2009.
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[PubMed: 19648918]
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[Full Text: https://doi.org/10.1038/ng.429]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Blumenfeld, O. O.
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<strong>The ABO gene--more variation! (Letter)</strong>
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Blood 102: 2715 only, 2003.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Clemens, J. D., Sack, D. A., Harris, J. R., Chakraborty, J., Khan, M. R., Huda, S., Ahmed, F., Gomes, J., Rao, M. R., Svennerholm, A.-M., Holmgren, J.
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<strong>ABO blood groups and cholera: new observations on specificity of risk and modification of vaccine efficacy.</strong>
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J. Infect. Dis. 159: 770-773, 1989.
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[PubMed: 2647864]
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[Full Text: https://doi.org/10.1093/infdis/159.4.770]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Cook, P. J. L., Robson, E. B., Buckton, K. E., Slaughter, C. A., Gray, J. E., Blank, C. E., James, F. E., Ridler, M. A. C., Insley, J., Hulten, M.
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<strong>Segregation of ABO, AK(1) and ACONs in families with abnormalities of chromosome 9.</strong>
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Ann. Hum. Genet. 41: 365-378, 1978.
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[PubMed: 204246]
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Matthew B. Gross - updated : 11/18/2014<br>George E. Tiller - updated : 12/6/2011<br>Paul J. Converse - updated : 7/29/2010<br>Ada Hamosh - updated : 11/10/2009<br>Paul J. Converse - updated : 8/18/2008<br>Cassandra L. Kniffin - updated : 10/17/2005<br>Victor A. McKusick - updated : 1/15/2004<br>Victor A. McKusick - updated : 10/10/2003<br>Victor A. McKusick - updated : 7/1/2002<br>Victor A. McKusick - updated : 11/5/2001<br>Victor A. McKusick - updated : 6/16/1997<br>Victor A. McKusick - updated : 5/16/1997
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<span class="text-nowrap mim-text-font">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/4/1986
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Edit History:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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mgross : 11/18/2014<br>mgross : 11/18/2014<br>alopez : 12/6/2011<br>alopez : 7/29/2010<br>alopez : 11/12/2009<br>terry : 11/10/2009<br>carol : 3/31/2009<br>mgross : 8/21/2008<br>mgross : 8/21/2008<br>terry : 8/18/2008<br>terry : 2/7/2006<br>wwang : 10/26/2005<br>ckniffin : 10/17/2005<br>joanna : 3/19/2004<br>joanna : 3/19/2004<br>cwells : 1/21/2004<br>terry : 1/15/2004<br>tkritzer : 10/21/2003<br>terry : 10/10/2003<br>cwells : 7/30/2002<br>terry : 7/1/2002<br>carol : 11/8/2001<br>mcapotos : 11/5/2001<br>carol : 5/22/2000<br>carol : 5/18/1999<br>alopez : 5/8/1998<br>alopez : 6/16/1997<br>mark : 5/19/1997<br>terry : 5/16/1997<br>mark : 5/13/1997<br>mark : 12/29/1996<br>terry : 6/20/1996<br>terry : 6/18/1996<br>mark : 6/27/1995<br>jason : 7/1/1994<br>davew : 6/9/1994<br>warfield : 4/6/1994<br>mimadm : 2/11/1994<br>carol : 9/27/1993
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