title: A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17.
abstract: 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.
authors.affiliation: Graduate Program in Genetics, Michigan State University, East Lansing 48824-1115.
authors.forename: T B
authors.initials: TB
authors.lastname: Friedman
authors.forename: Y
authors.initials: Y
authors.lastname: Liang
authors.forename: J L
authors.initials: JL
authors.lastname: Weber
authors.forename: J T
authors.initials: JT
authors.lastname: Hinnant
authors.forename: T D
authors.initials: TD
authors.lastname: Barber
authors.forename: S
authors.initials: S
authors.lastname: Winata
authors.forename: I N
authors.initials: IN
authors.lastname: Arhya
authors.forename: J H
authors.initials: JH
authors.lastname: Asher
mesh_terms: D000483:Alleles; D000818:Animals; D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17; D003638:Deafness / Q000151:congenital* / Q000235:genetics*; D005260:Female; D018703:Founder Effect; D005808:Genes, Recessive; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D007214:Indonesia; D015810:Linkage Disequilibrium; D008297:Male; D051379:Mice; D010375:Pedigree
chemical_list: D005819:Genetic Markers