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<title>
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Entry
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- #110500 - BLOOD GROUP, DIEGO SYSTEM; DI
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- OMIM
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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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<a href="/search/advanced/geneMap"> Gene Map </a>
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<p>
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<span class="h4">#110500</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#mapping">Mapping</a>
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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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<a href="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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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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<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-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=" 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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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in 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://clinicaltrials.gov/search?cond=(BLOOD GROUP, DIEGO SYSTEM) OR (SLC4A1)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/7834" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=110500[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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<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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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 115689007<br />
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">ICD+</a>
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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="Phenotype description, molecular basis known">
|
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<span class="text-danger"><strong>#</strong></span>
|
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110500
|
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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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BLOOD GROUP, DIEGO SYSTEM; DI
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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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DIEGO BLOOD GROUP SYSTEM
|
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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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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
|
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</span>
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</h4>
|
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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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<th>
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Gene/Locus
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</th>
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<th>
|
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Gene/Locus <br /> MIM number
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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>
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<span class="mim-font">
|
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<a href="/geneMap/17/635?start=-3&limit=10&highlight=635">
|
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17q21.31
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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, Diego]
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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/110500"> 110500 </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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<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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<td>
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<span class="mim-font">
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SLC4A1
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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/109270"> 109270 </a>
|
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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 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>
|
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/110500" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
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<li><a href="/graph/radial/110500" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</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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<p>A number sign (#) is used with this entry because antigens of the Diego blood group system result from variation in the SLC4A1 gene (<a href="/entry/109270">109270</a>) on chromosome 17q21.</p>
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<p>The Diego blood group system consists of 2 pairs of antithetical antigens, Di(a) and Di(b) and Wr(a) and Wr(b), and at least 17 low-frequency antigens that result from amino acid substitutions in SLC4A1, which encodes the erythrocyte band-3 protein. The low-frequency Di(a) and high-frequency Di(b) antigens represent leu854 and pro854, respectively. The low-frequency Wr(a) and high-frequency Wr(b) antigens represent lys658 and glu658, respectively. No healthy person with a Diego-null phenotype has been reported, reflecting the functional importance of SLC4A1 (summary by <a href="#2" class="mim-tip-reference" title="Daniel, G. <strong>Human Blood Groups (2nd ed.)</strong> Oxford: :Blackwell 2002. Pp. 352-368."None>Daniel, 2002</a>).</p>
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<p>The Di(a) antigen was first described in Venezuela on the basis of an antibody that had been the cause of hemolytic disease of the newborn (<a href="#4" class="mim-tip-reference" title="Levine, P., Layrisse, M., Robinson, E. A., Arends, T., Domingues Sisco, R. <strong>The Diego blood factor.</strong> Nature 177: 40-41, 1956.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13288586/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13288586</a>] [<a href="https://doi.org/10.1038/177040b0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13288586">Levine et al., 1956</a>). A second example of anti-Di(a) was found in Buffalo in the serum of a Polish mother, whose child also suffered from hemolytic disease of the newborn (<a href="#7" class="mim-tip-reference" title="Tatarsky, J., Stroup, M., Levine, P., Ernoehazy, W. S. <strong>Another example of anti-Diego (Di-a).</strong> Vox Sang. 4: 152-154, 1959.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13669428/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13669428</a>] [<a href="https://doi.org/10.1111/j.1423-0410.1959.tb04030.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13669428">Tatarsky et al., 1959</a>). The Diego system shows polymorphism mainly in Mongolian peoples, e.g., Chinese and American Indians. In a family of Polish origin, <a href="#3" class="mim-tip-reference" title="Kusnierz-Alejska, G., Bochenek, S. <strong>Haemolytic disease of the newborn due to anti-Di(a) and incidence of the Di(a) antigen in Poland.</strong> Vox Sang. 62: 124-126, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1519367/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1519367</a>]" pmid="1519367">Kusnierz-Alejska and Bochenek (1992)</a> found anti-Di(a) antibody in the serum of a mother who gave birth to a newborn with severe hemolytic anemia. They identified the Di(a) antigen in 45 of 9,661 donor blood samples from different regions of Poland (0.46%). All 45 were of Polish ancestry. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1519367+13288586+13669428" 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><a href="#8" class="mim-tip-reference" title="Zelinski, T., Coghlan, G., White, L., Philipps, S. <strong>The Diego blood group locus is located on chromosome 17q.</strong> Genomics 17: 665-666, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7902326/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7902326</a>] [<a href="https://doi.org/10.1006/geno.1993.1387" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7902326">Zelinski et al. (1993)</a> showed that the DI blood group is tightly linked to the erythrocyte surface protein band-3 locus (SLC4A1); maximum lod = 5.42 at theta = 0.00. Looser linkage between DI and D17S41 (maximum lod = 3.14 at theta = 0.09) for combined paternal and maternal meioses was also established. The EPB3 gene is located at 17q21-q22. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7902326" 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><a href="#1" class="mim-tip-reference" title="Bruce, L. J., Anstee, D. J., Spring, F. A., Tanner, M. J. A. <strong>Band 3 Memphis variant. II. Altered stilbene disulfonate binding and the Diego (Di(a)) blood group antigen are associated with the human erythrocyte band-3 mutation pro854-to-leu.</strong> J. Biol. Chem. 269: 16155-16158, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8206915/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8206915</a>]" pmid="8206915">Bruce et al. (1994)</a> demonstrated that the Di(a)/Di(b) polymorphism is a single amino acid substitution at position 854 of the band-3 protein, with proline of the wildtype band-3 protein corresponding to the Di(b) antigen and leucine to the Di(a) antigen (<a href="/entry/109270#0017">109270.0017</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8206915" 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>Data on gene frequencies of allelic variants were tabulated by <a href="#6" 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>
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<a href="#Lewis1976" class="mim-tip-reference" title="Lewis, M., Kaita, H., Chown, B., Giblett, E. R., Anderson, J., Steinberg, A. G. <strong>The Diego blood groups: a genetic linkage analysis.</strong> Am. J. Hum. Genet. 28: 18-21, 1976.">Lewis et al. (1976)</a>
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Bruce, L. J., Anstee, D. J., Spring, F. A., Tanner, M. J. A.
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<strong>Band 3 Memphis variant. II. Altered stilbene disulfonate binding and the Diego (Di(a)) blood group antigen are associated with the human erythrocyte band-3 mutation pro854-to-leu.</strong>
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J. Biol. Chem. 269: 16155-16158, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8206915/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8206915</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8206915" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Daniel, G.
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<strong>Human Blood Groups (2nd ed.)</strong>
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Oxford: :Blackwell 2002. Pp. 352-368.
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Kusnierz-Alejska, G., Bochenek, S.
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<strong>Haemolytic disease of the newborn due to anti-Di(a) and incidence of the Di(a) antigen in Poland.</strong>
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Vox Sang. 62: 124-126, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1519367/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1519367</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1519367" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Levine, P., Layrisse, M., Robinson, E. A., Arends, T., Domingues Sisco, R.
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<strong>The Diego blood factor.</strong>
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Nature 177: 40-41, 1956.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13288586/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13288586</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13288586" 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/10.1038/177040b0" target="_blank">Full Text</a>]
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Lewis, M., Kaita, H., Chown, B., Giblett, E. R., Anderson, J., Steinberg, A. G.
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<strong>The Diego blood groups: a genetic linkage analysis.</strong>
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Am. J. Hum. Genet. 28: 18-21, 1976.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1247017/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1247017</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1247017" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Roychoudhury, A. K., Nei, M.
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<strong>Human Polymorphic Genes: World Distribution.</strong>
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New York: Oxford Univ. Press (pub.) 1988.
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Tatarsky, J., Stroup, M., Levine, P., Ernoehazy, W. S.
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<strong>Another example of anti-Diego (Di-a).</strong>
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Vox Sang. 4: 152-154, 1959.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13669428/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13669428</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13669428" 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.1423-0410.1959.tb04030.x" target="_blank">Full Text</a>]
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Zelinski, T., Coghlan, G., White, L., Philipps, S.
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<strong>The Diego blood group locus is located on chromosome 17q.</strong>
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Genomics 17: 665-666, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7902326/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7902326</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7902326" 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/geno.1993.1387" target="_blank">Full Text</a>]
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<span class="mim-text-font">
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Matthew B. Gross - updated : 04/05/2018
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Victor A. McKusick - updated : 2/1/1999
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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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carol : 05/03/2022
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mgross : 04/05/2018<br>mgross : 04/05/2018<br>carol : 01/04/2006<br>terry : 3/15/2000<br>terry : 6/9/1999<br>carol : 2/4/1999<br>carol : 2/4/1999<br>terry : 2/1/1999<br>mimadm : 2/11/1994<br>carol : 9/21/1993<br>carol : 8/11/1992<br>carol : 6/19/1992<br>carol : 6/15/1992<br>supermim : 3/16/1992
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<strong>#</strong> 110500
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BLOOD GROUP, DIEGO SYSTEM; DI
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<em>Alternative titles; symbols</em>
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DIEGO BLOOD GROUP SYSTEM
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 115689007;
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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Location
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Phenotype
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</th>
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Phenotype <br /> MIM number
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Inheritance
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<th>
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<tbody>
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<span class="mim-font">
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17q21.31
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<span class="mim-font">
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[Blood group, Diego]
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<span class="mim-font">
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110500
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<td>
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<span class="mim-font">
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3
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SLC4A1
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<span class="mim-font">
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109270
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<span class="mim-font">
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<strong>TEXT</strong>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because antigens of the Diego blood group system result from variation in the SLC4A1 gene (109270) on chromosome 17q21.</p>
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<h4>
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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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<span class="mim-text-font">
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<p>The Diego blood group system consists of 2 pairs of antithetical antigens, Di(a) and Di(b) and Wr(a) and Wr(b), and at least 17 low-frequency antigens that result from amino acid substitutions in SLC4A1, which encodes the erythrocyte band-3 protein. The low-frequency Di(a) and high-frequency Di(b) antigens represent leu854 and pro854, respectively. The low-frequency Wr(a) and high-frequency Wr(b) antigens represent lys658 and glu658, respectively. No healthy person with a Diego-null phenotype has been reported, reflecting the functional importance of SLC4A1 (summary by Daniel, 2002).</p>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The Di(a) antigen was first described in Venezuela on the basis of an antibody that had been the cause of hemolytic disease of the newborn (Levine et al., 1956). A second example of anti-Di(a) was found in Buffalo in the serum of a Polish mother, whose child also suffered from hemolytic disease of the newborn (Tatarsky et al., 1959). The Diego system shows polymorphism mainly in Mongolian peoples, e.g., Chinese and American Indians. In a family of Polish origin, Kusnierz-Alejska and Bochenek (1992) found anti-Di(a) antibody in the serum of a mother who gave birth to a newborn with severe hemolytic anemia. They identified the Di(a) antigen in 45 of 9,661 donor blood samples from different regions of Poland (0.46%). All 45 were of Polish ancestry. </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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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Zelinski et al. (1993) showed that the DI blood group is tightly linked to the erythrocyte surface protein band-3 locus (SLC4A1); maximum lod = 5.42 at theta = 0.00. Looser linkage between DI and D17S41 (maximum lod = 3.14 at theta = 0.09) for combined paternal and maternal meioses was also established. The EPB3 gene is located at 17q21-q22. </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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<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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</div>
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<span class="mim-text-font">
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<p>Bruce et al. (1994) demonstrated that the Di(a)/Di(b) polymorphism is a single amino acid substitution at position 854 of the band-3 protein, with proline of the wildtype band-3 protein corresponding to the Di(b) antigen and leucine to the Di(a) antigen (109270.0017). </p><p>Data on gene frequencies of allelic variants were tabulated by Roychoudhury and Nei (1988).</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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<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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Lewis 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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Bruce, L. J., Anstee, D. J., Spring, F. A., Tanner, M. J. A.
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<strong>Band 3 Memphis variant. II. Altered stilbene disulfonate binding and the Diego (Di(a)) blood group antigen are associated with the human erythrocyte band-3 mutation pro854-to-leu.</strong>
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J. Biol. Chem. 269: 16155-16158, 1994.
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[PubMed: 8206915]
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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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Daniel, G.
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<strong>Human Blood Groups (2nd ed.)</strong>
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Oxford: :Blackwell 2002. Pp. 352-368.
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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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Kusnierz-Alejska, G., Bochenek, S.
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<strong>Haemolytic disease of the newborn due to anti-Di(a) and incidence of the Di(a) antigen in Poland.</strong>
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Vox Sang. 62: 124-126, 1992.
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[PubMed: 1519367]
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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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Levine, P., Layrisse, M., Robinson, E. A., Arends, T., Domingues Sisco, R.
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<strong>The Diego blood factor.</strong>
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Nature 177: 40-41, 1956.
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[PubMed: 13288586]
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[Full Text: https://doi.org/10.1038/177040b0]
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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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Lewis, M., Kaita, H., Chown, B., Giblett, E. R., Anderson, J., Steinberg, A. G.
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<strong>The Diego blood groups: a genetic linkage analysis.</strong>
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Am. J. Hum. Genet. 28: 18-21, 1976.
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[PubMed: 1247017]
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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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Roychoudhury, A. K., Nei, M.
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<strong>Human Polymorphic Genes: World Distribution.</strong>
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New York: Oxford Univ. Press (pub.) 1988.
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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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Tatarsky, J., Stroup, M., Levine, P., Ernoehazy, W. S.
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<strong>Another example of anti-Diego (Di-a).</strong>
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Vox Sang. 4: 152-154, 1959.
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[PubMed: 13669428]
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[Full Text: https://doi.org/10.1111/j.1423-0410.1959.tb04030.x]
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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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Zelinski, T., Coghlan, G., White, L., Philipps, S.
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<strong>The Diego blood group locus is located on chromosome 17q.</strong>
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Genomics 17: 665-666, 1993.
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[PubMed: 7902326]
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[Full Text: https://doi.org/10.1006/geno.1993.1387]
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</p>
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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 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>
|
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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 : 04/05/2018<br>Victor A. McKusick - updated : 2/1/1999
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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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<br />
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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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Creation Date:
|
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</span>
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</div>
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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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</span>
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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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Edit History:
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</span>
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</div>
|
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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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carol : 05/03/2022<br>mgross : 04/05/2018<br>mgross : 04/05/2018<br>carol : 01/04/2006<br>terry : 3/15/2000<br>terry : 6/9/1999<br>carol : 2/4/1999<br>carol : 2/4/1999<br>terry : 2/1/1999<br>mimadm : 2/11/1994<br>carol : 9/21/1993<br>carol : 8/11/1992<br>carol : 6/19/1992<br>carol : 6/15/1992<br>supermim : 3/16/1992
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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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NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers,
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and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal
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