A HUMAN GENE RESPONSIBLE FOR NEUROSENSORY, NONSYNDROMIC RECESSIVE DEAFNESS IS A CANDIDATE HOMOLOG OF THE MOUSE SH-1 GENE

被引:113
作者
GUILFORD, P
AYADI, H
BLANCHARD, S
CHAIB, H
LEPASLIER, D
WEISSENBACH, J
DRIRA, M
PETIT, C
机构
[1] INST PASTEUR,UNITE GENET MOLEC HUMAINE,F-75015 PARIS,FRANCE
[2] FAC MED SFAX,IMMUNOL LAB,SFAX,TUNISIA
[3] CTR ETUD POLYMORPHISME HUMAIN,F-75010 PARIS,FRANCE
[4] GENETHON,F-9102 EVRY,FRANCE
[5] HOP HABIB BOURGUIBA,SERV ORL,SFAX,TUNISIA
关键词
D O I
10.1093/hmg/3.6.989
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 identification of mouse models for the various forms of human neurosensory non-syndromic recessive deafness would constitute a major advance in the study of human deafness. Here we describe the localization of a human gene for neurosensory, nonsyndromic recessive deafness (NSRD2) to chromosome 11q13.5 by linkage analysis of a highly consanguineous family. A maximum lod score of 10.63 (theta = 0.018) was obtained for the microsatellite marker D11S527. Homozygosity mapping refined the localization of NSRD2 to a 6 cM interval also containing the olfactory marker protein (OMP) gene. The murine homologue of OMP is tightly linked to the autosomal recessive deafness gene sh-1. These results, and clinical data, suggest that NSRD2 is the human homologue of the mouse sh-1 gene.
引用
收藏
页码:989 / 993
页数:5
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