Linkage studies of non-syndromic recessive deafness (NSRD) in a family originating from the Mirpur region of Pakistan maps DFNB1 centromeric to D13S175

Hum Mol Genet. 1996 Jan;5(1):169-73. doi: 10.1093/hmg/5.1.169.

Abstract

Autosomal recessive non-syndromal hearing impairment (NSRD) is genetically heterogeneous. Five loci have been identified to date which map to chromosomes 13 (DFNB1), 11 (DFNB2), 17 (DFNB3), 7 (DFNB4) and 14 (DFBN5). We report definite linkage of NSRD to the locus DFNB1 in a single family of 27 families studied of Pakistani origin. Haplotype analysis of markers in the pericentromeric region of chromosome 13q revealed a recombination event which maps DFNB1 proximal to the marker D13S175 and in the vicinity of D13S143.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • Chromosome Mapping*
  • Chromosomes, Human, Pair 13*
  • Connexin 26
  • Connexins
  • Consanguinity
  • Deafness / ethnology
  • Deafness / genetics*
  • Female
  • Genes, Recessive
  • Genotype
  • Humans
  • Lod Score
  • Male
  • Pakistan / ethnology
  • Pedigree
  • United Kingdom / epidemiology

Substances

  • Connexins
  • GJB2 protein, human
  • Connexin 26