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Human Molecular Genetics, Vol 5, 169-173, Copyright © 1996 by Oxford University Press


ARTICLES

Linkage studies of non-syndromic recessive deafness (NSRD) in a family originating from the Mirpur region of Pakistan maps DFNB1 centromeric to D13S175 [published erratum appears in Hum Mol Genet 1996 May;5(5):710]

KA Brown, AH Janjua, G Karbani, G Parry, A Noble, G Crockford, DT Bishop, VE Newton, AF Markham and RF Mueller
Molecular Medicine Unit, University of Leeds, UK.

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.
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