Linkage studies of non-syndromic recessive deafness (NSRD) in a family originating from the Mirpur region of Pakistan maps DFNB1 centromeric to D13S175

被引：38

作者：

Brown, KA

Janjua, AH

Karbani, G

Parry, G

Noble, A

Crockford, G

Bishop, DT

Newton, VE

Markham, AF

Mueller, RF

机构：

[1] ST JAMES UNIV HOSP, YORKSHIRE REG CLIN GENET SERV, LEEDS LS9 7TF, W YORKSHIRE, ENGLAND

[2] UNIV LEEDS, ST JAMES HOSP, MOLEC MED UNIT, LEEDS LS9 7TF, W YORKSHIRE, ENGLAND

[3] UNIV MANCHESTER, CTR AUDIOL EDUC DEAF & SPEECH PATHOL, MANCHESTER, LANCS, ENGLAND

[4] ST LUKES HOSP, DEPT PAEDIAT, BRADFORD BD5 0NA, W YORKSHIRE, ENGLAND

[5] ST JAMES UNIV HOSP, IMPERIAL CANC RES FUND, EPIDEMIOL UNIT, LEEDS LS9 7TF, W YORKSHIRE, ENGLAND

来源：

HUMAN MOLECULAR GENETICS | 1996年 / 5卷 / 01期

基金：

英国惠康基金;

关键词：

D O I：

10.1093/hmg/5.1.169

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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.

引用

收藏

页码：169 / 173

页数：5

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