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

来源：

HUMAN MOLECULAR GENETICS | 1994年 / 3卷 / 06期

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

页码：989 / 993

页数：5

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