Abstract:
: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.
journal_name
Hum Mol Genetjournal_title
Human molecular geneticsauthors
Guilford P,Ayadi H,Blanchard S,Chaib H,Le Paslier D,Weissenbach J,Drira M,Petit Cdoi
10.1093/hmg/3.6.989subject
Has Abstractpub_date
1994-06-01 00:00:00pages
989-93issue
6eissn
0964-6906issn
1460-2083journal_volume
3pub_type
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