LINKAGE STUDIES OF NON-SYNDROMIC RECESSIVE DEAFNESS (NSRD) IN A FAMILY ORIGINATING FROM THE MIRPUR REGION OF PAKISTAN MAPS DFNB1 CENTROMERIC TO D13S175
Ka. Brown et al., LINKAGE STUDIES OF NON-SYNDROMIC RECESSIVE DEAFNESS (NSRD) IN A FAMILY ORIGINATING FROM THE MIRPUR REGION OF PAKISTAN MAPS DFNB1 CENTROMERIC TO D13S175, Human molecular genetics, 5(1), 1996, pp. 169-173
Autosomal recessive non-syndromal hearing impairment (NSRD) is genetic
ally heterogeneous. Five loci have been identified to date which map t
o 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 fa
mily of 27 families studied of Pakistani origin. Haplotype analysis of
markers in the pericentromeric region of chromosome 13q revealed a re
combination event which maps DFNB1 proximal to the marker D13S175 and
in the vicinity of D13S143.