Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10

被引:80
作者
Wayne, S
DerKaloustian, VM
Schloss, M
Polomeno, R
Scott, DA
Hejtmancik, JF
Sheffield, VC
Smith, RJH
机构
[1] UNIV IOWA,DEPT OTOLARYNGOL,IOWA CITY,IA 52242
[2] UNIV IOWA,DEPT PEDIAT,IOWA CITY,IA 52242
[3] MCGILL UNIV,DEPT PEDIAT,MONTREAL,PQ H3A 2T5,CANADA
[4] MCGILL UNIV,DEPT HUMAN GENET,MONTREAL,PQ H3A 2T5,CANADA
[5] MCGILL UNIV,DEPT OTOLARYNGOL,MONTREAL,PQ H3A 2T5,CANADA
[6] MCGILL UNIV,DEPT OPHTHALMOL,MONTREAL,PQ H3A 2T5,CANADA
[7] NEI,BETHESDA,MD 20892
关键词
D O I
10.1093/hmg/5.10.1689
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
The Usher syndromes (USH) are a group of autosomal recessive diseases characterized by progressive pigmentary retinopathy and sensorineural hearing loss, Five USH genes have been mapped and at least one additional gene is known to exist, By homozygosity mapping in a consanguineous family, a sixth USH gene has been localized, Clinical findings in the four affected children are consistent with established diagnostic criteria for Ush1, Linkage to known USH loci was excluded, and using two genomic DNA pools, one from the affected children and the other from the parents, 161 polymorphic markers evenly spaced across the autosomal human genome were screened, The location of the Ush1 D gene was defined by the only region showing homozygosity by descent in the affected siblings, a15 cM interval on chromosome 10q bounded by D10S529 and D10S573.
引用
收藏
页码:1689 / 1692
页数:4
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