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] |
| |
| Authors: | Brown, KA Janjua, AH Karbani, G Parry, G Noble, A Crockford, G Bishop, DT Newton, VE Markham, AF Mueller, RF |
| |
| Affiliation: | Molecular Medicine Unit, University of Leeds, UK. |
| |
| Abstract: | Autosomal recessive non-syndromal hearing impairment (NSRD) is geneticallyheterogeneous. Five loci have been identified to date which map tochromosomes 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 of27 families studied of Pakistani origin. Haplotype analysis of markers inthe pericentromeric region of chromosome 13q revealed a recombination eventwhich maps DFNB1 proximal to the marker D13S175 and in the vicinity ofD13S143. |
| |
| Keywords: | |
| 本文献已被 Oxford 等数据库收录！ |
|
