Amish brittle hair syndrome gene maps to 7p14.1.
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.
Seboun
Eric
E
Division de Génétique et de Microbiologie, Université Pierre et Marie Curie, Paris, France. seboun@ccr.jussieu.fr
Lemainque
Arnaud
A
Jackson
Charles E
CE
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002874:Chromosome Mapping; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D003241:Consanguinity; D005006:Ethnicity / Q000235:genetics*; D005192:Family Health; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006130:Growth Disorders / Q000473:pathology; D006197:Hair / Q000002:abnormalities*; D006239:Haplotypes; D006801:Humans; D007246:Infertility / Q000473:pathology; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats; D010375:Pedigree; D013577:Syndrome