A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17

Two percent of the residents of Bengkala, Bali, have profound, congenital, neurosensory, nonsyndromal deafness due to an autosomal recessive mutation at the DFNB3 locus. We have employed a direct genome-wide disequilibrium search strategy, allele-frequency-dependent homozygosity mapping (AHM), and a...

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Published inNature genetics Vol. 9; no. 1; pp. 86 - 91
Main Authors Friedman, Thomas B, Liang, Yong, Weber, James L, Hinnant, John T, Barber, Thomas D, Winata, Sunaryana, Arhya, I. Nyoman, Asher, James H
Format Journal Article
LanguageEnglish
Published United States 01.01.1995
Subjects
Alleles
Animals
Bali
chromosome 17
Chromosome Mapping
Chromosomes, Human, Pair 17
deafness
Deafness - congenital
Deafness - genetics
DFNB3 gene
Female
Founder Effect
gene mapping
Genes, Recessive
Genetic Linkage
Genetic Markers
Humans
Indonesia
Linkage Disequilibrium
Male
man
Mice
Pedigree
Indonesia
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Summary:Two percent of the residents of Bengkala, Bali, have profound, congenital, neurosensory, nonsyndromal deafness due to an autosomal recessive mutation at the DFNB3 locus. We have employed a direct genome-wide disequilibrium search strategy, allele-frequency-dependent homozygosity mapping (AHM), and an analysis of historical recombinants to map DFNB3 and position the locus relative to flanking markers. DFNB3 maps to chromosome 17, closest to D17S261, pRM7-GT and D17S805. In individuals homozygous for DFNB3, historical recombinant genotypes for the flanking markers, D17S122 and D17S783, place DFNB3 in a 5.3 cM interval of the pericentromeric region of chromosome 17 on a refined linkage map of 17p-17q12. Based on conserved synteny, the murine sh2 gene may be the homologue of DFNB3.
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ISSN:1061-4036
1546-1718
DOI:10.1038/ng0195-86