title: Linkage studies of non-syndromic recessive deafness (NSRD) in a family originating from the Mirpur region of Pakistan maps DFNB1 centromeric to D13S175.
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.
authors.affiliation: Molecular Medicine Unit, University of Leeds, UK.
authors.forename: K A
authors.initials: KA
authors.lastname: Brown
authors.forename: A H
authors.initials: AH
authors.lastname: Janjua
authors.forename: G
authors.initials: G
authors.lastname: Karbani
authors.forename: G
authors.initials: G
authors.lastname: Parry
authors.forename: A
authors.initials: A
authors.lastname: Noble
authors.forename: G
authors.initials: G
authors.lastname: Crockford
authors.forename: D T
authors.initials: DT
authors.lastname: Bishop
authors.forename: V E
authors.initials: VE
authors.lastname: Newton
authors.forename: A F
authors.initials: AF
authors.lastname: Markham
authors.forename: R F
authors.initials: RF
authors.lastname: Mueller
mesh_terms: D002648:Child; D002874:Chromosome Mapping; D002882:Chromosomes, Human, Pair 13; D000072259:Connexin 26; D017630:Connexins; D003241:Consanguinity; D003638:Deafness / Q000208:ethnology / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D005838:Genotype; D006801:Humans; D008126:Lod Score; D008297:Male; D010154:Pakistan / Q000208:ethnology; D010375:Pedigree; D006113:United Kingdom / Q000453:epidemiology
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26