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 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.
Friedman
T B
TB
Graduate Program in Genetics, Michigan State University, East Lansing 48824-1115.
Liang
Y
Y
Weber
J L
JL
Hinnant
J T
JT
Barber
T D
TD
Winata
S
S
Arhya
I N
IN
Asher
J H
JH
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
D005819:Genetic Markers