Publication Details

AFRICAN RESEARCH NEXUS

SHINING A SPOTLIGHT ON AFRICAN RESEARCH

biochemistry, genetics and molecular biology

Mapping of DFNB12 a gene for a non-syndromal autosomal recessive deafness, to chromosome 10q21-22

Human Molecular Genetics, Volume 5, No. 7, Year 1996

We report here, the localization of a new recessive non-syndromal deafness gene (DFNB12) to 10q21-22 by linkage analysis, of a Sunni family. Affected individuals suffer from congenital profound sensorineural hearing loss. A maximum LOD score of 6.40 (θ = 0.00) was obtained with locus D10S535. Analysis of patients carrying recombinations mapped the gene distal to D10S529 and proximal to D10S532, delineating an interval between 11 and 15 cM. Three deaf mouse mutants Jackson circler (jc), Waltzer (v) and Ames waltzer (av) have been localized to the homologous murine region on chromosome 10. Each of these mouse mutants is a candidate mouse model for the DFNB12-associated hearing impairment.
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Citations: 82
Authors: 9
Affiliations: 5
Identifiers
Research Areas
Disability
Genetics And Genomics