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. 2001 Apr;68(4):1048-54.
doi: 10.1086/319505. Epub 2001 Mar 15.

Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7

S Goobie  1 , M Popovic, J Morrison, L Ellis, H Ginzberg, G R Boocock, N Ehtesham, C Bétard, C G Brewer, N M Roslin, T J Hudson, K Morgan, T M Fujiwara, P R Durie, J M Rommens
Affiliations

Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7

S Goobie et al. Am J Hum Genet. 2001 Apr.

Abstract

Shwachman-Diamond syndrome (SDS) is an autosomal recessive disorder characterized by exocrine pancreatic insufficiency and hematologic and skeletal abnormalities. A genomewide scan of families with SDS was terminated at approximately 50% completion, with the identification of chromosome 7 markers that showed linkage with the disease. Finer mapping revealed significant linkage across a broad interval that included the centromere. The maximum two-point LOD score was 8.7, with D7S473, at a recombination fraction of 0. The maximum multipoint LOD score was 10, in the interval between D7S499 and D7S482 (5.4 cM on the female map and 0 cM on the male map), a region delimited by recombinant events detected in affected children. Evidence from all 15 of the multiplex families analyzed provided support for the linkage, consistent with a single locus for SDS. However, the presence of several different mutations is suggested by the heterogeneity of disease-associated haplotypes in the candidate region.

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Figures

Figure 1
Figure 1
Pedigrees of families with SDS, indicating individuals from whom DNA was available. The families were from Canada, the United States, England, and The Netherlands; all families were white, and none were known to have consanguineous matings. Affected individuals are denoted by black symbols. A, Multiplex families used to map the SDS locus to chromosome region 7p12-q11. B, Additional families used in the refined mapping (see table 1).
Figure 2
Figure 2
Multipoint LOD scores for the location of the SDS locus. Black circles (●) indicate the positions of the markers. The map of 30 markers appears to be longer than is indicated in table 1 because the Haldane mapping function was used. Black triangles (▾) indicate the positions of the two markers flanking the candidate region, and white triangles (▿) indicate the positions of the markers used in the genomewide scan. LOD scores <−2.5 are not shown.
See this image and copyright information in PMC

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References

Electronic-Database Information

    1. Center for Medical Genetics, Marshfield Medical Research Foundation, http://research.marshfieldclinic.org/genetics/ (for genetic maps)
    1. Genetic Location Database, The, http://cedar.genetics.soton.ac.uk/public_html/ldb.html (for map locations on chromosome 7)
    1. Online Mendelian Inheritance in Man (OMIM), http://www.ncbi.nlm.nih.gov/Omim/ (for SDS [MIM 260400]) - PubMed
    1. Stanford Human Genome Center (SHGC) Web, http://www-shgc.stanford.edu/ (for G3 radiation hybrid map, version 2.0)

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