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Am J Med Genet A. 2005 Apr 30;134(3):290-4.

Amish brittle hair syndrome gene maps to 7p14.1.

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1
Division de Génétique et de Microbiologie, Université Pierre et Marie Curie, Paris, France. seboun@ccr.jussieu.fr

Abstract

The brittle hair syndrome (BHS) is characterized by short stature, intellectual impairment, brittle hair, and decreased fertility in 20 members from a large Amish consanguineous kindred previously reported affected with this syndrome. We mapped the BHS gene by genome scan to chromosome 7p14.1. Evidence of linkage was supported by a maximum multipoint LOD score of 6 obtained with GENEHUNTER for the linkage interval defined by markers D7S484-D7S2422 distant by 17.2 cM. Two-point linkage analysis performed with SUPERLINK yielded a LOD score of 9.02 at theta = 0 for marker D7S2497 located within that interval. Analysis of haplotypes homozygous-by-descent allowed fine mapping of the BHS gene within a 4.81 cM interval delimited by markers D7S2497 and D7S691, a region that spreads over 3.42 Mb.

PMID:
15723315
DOI:
10.1002/ajmg.a.30615
[Indexed for MEDLINE]
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