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

Citation
P. Guilford et al., A HUMAN GENE RESPONSIBLE FOR NEUROSENSORY, NONSYNDROMIC RECESSIVE DEAFNESS IS A CANDIDATE HOMOLOG OF THE MOUSE SH-1 GENE, Human molecular genetics, 3(6), 1994, pp. 989-993
Citations number
33
Categorie Soggetti
Genetics & Heredity",Biology
Journal title
ISSN journal
09646906
Volume
3
Issue
6
Year of publication
1994
Pages
989 - 993
Database
ISI
SICI code
0964-6906(1994)3:6<989:AHGRFN>2.0.ZU;2-J
Abstract
The identification of mouse models for the various forms of human neur osensory non-syndromic recessive deafness would constitute a major adv ance in the study of human deafness. Here we describe the localization of a human gene for neurosensory, nonsyndromic recessive deafness (NS RD2) to chromosome 11q13.5 by linkage analysis of a highly consanguine ous family. A maximum lod score of 10.63 (theta = 0.018) was obtained for the microsatellite marker D11S527. Homozygosity mapping refined th e localization of NSRD2 to a 6 cM interval also containing the olfacto ry marker protein (OMP) gene. The murine homologue of OMP is tightly l inked to the autosomal recessive deafness gene sh-1. These results, an d clinical data, suggest that NSRD2 is the human homologue of the mous e sh-1 gene.