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

Nat Genet. 1995 Jan;9(1):86-91. doi: 10.1038/ng0195-86.


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.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Alleles
  • Animals
  • Chromosome Mapping*
  • Chromosomes, Human, Pair 17*
  • Deafness / congenital*
  • Deafness / genetics*
  • Female
  • Founder Effect
  • Genes, Recessive*
  • Genetic Linkage
  • Genetic Markers
  • Humans
  • Indonesia
  • Linkage Disequilibrium
  • Male
  • Mice
  • Pedigree


  • Genetic Markers