| Literature DB >> 8789457 |
K A Brown1, A H Janjua, G Karbani, G Parry, A Noble, G Crockford, D T Bishop, V E Newton, A F Markham, R F Mueller.
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.Entities:
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Year: 1996 PMID： 8789457 DOI： 10.1093/hmg/5.1.169
Source DB: PubMed Journal: Hum Mol Genet ISSN： 0964-6906 Impact factor: 6.150