MAPPING OF DFNB12, A GENE FOR A NON-SYNDROMAL AUTOSOMAL RECESSIVE DEAFNESS, TO CHROMOSOME 10Q21-22

Citation
H. Chaib et al., MAPPING OF DFNB12, A GENE FOR A NON-SYNDROMAL AUTOSOMAL RECESSIVE DEAFNESS, TO CHROMOSOME 10Q21-22, Human molecular genetics, 5(7), 1996, pp. 1061-1064
Citations number
40
Categorie Soggetti
Genetics & Heredity",Biology
Journal title
ISSN journal
09646906
Volume
5
Issue
7
Year of publication
1996
Pages
1061 - 1064
Database
ISI
SICI code
0964-6906(1996)5:7<1061:MODAGF>2.0.ZU;2-5
Abstract
We report here, the localization of a new recessive non-syndromal deaf ness gene (DFNB12) to 10q21-22 by linkage analysis, of a Sunni family, Affected individuals suffer from congenital profound sensorineural he aring loss. A maximum LOD score of 6.40 (theta = 0.00) was obtained wi th locus D10S535, Analysis of patients carrying recombinations mapped the gene distal to D10S529 and proximal to D10S532, delineating an int erval between 11 and 15 cM, Three deaf mouse mutants Jackson circler ( jc), waltzer (v) and Ames waltzer (av) have been localized to the homo logous murine region on chromosome 10, Each of these mouse mutants is a candidate mouse model for the DFNB12-associated hearing impairment.