A new locus for non-syndromal, autosomal recessive, sensorineural hearing loss (DFNB16) maps to human chromosome 15q21-q22

被引：29
作者：
Campbell, DA
McHale, DP
Brown, KA
Moynihan, LM
Houseman, M
Karbani, G
Parry, G
Janjua, AH
Newton, V
Al-Gazali, L
Markham, AF
Lench, NJ
Mueller, RF [1 ]
机构：
[1] St James Univ Hosp, Yorkshire Reg Clin Genet SErv, Leeds LS9 7TF, W Yorkshire, England
[2] St James Univ Hosp, Mol Med Unit, Leeds LS9 7TF, W Yorkshire, England
[3] St Lukes Hosp, Dept Paediat, Bradford BD5 0NA, W Yorkshire, England
[4] Univ Manchester, Ctr Audiol, Manchester, Lancs, England
[5] United Arab Emirates Univ, Dept Paediat, Al Ain, U Arab Emirates
来源：
JOURNAL OF MEDICAL GENETICS | 1997年 / 34卷 / 12期
基金：
英国惠康基金;
关键词：
sensorineural deafness; autosomal recessive; autozygosity mapping;
D O I：
10.1136/jmg.34.12.1015
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Non-syndromal, recessive deafness (NSRD) is the most common form of inherited deafness or hearing impairment in humans. NSRD is genetically heterogeneous and it has been estimated that as many as 35 different loci may be involved. We report the mapping of a novel locus for autosomal recessive, non-syndromal deafness (DFNB16) in three consanguineous families originating from Pakistan and the Middle East. Using multipoint analysis (HOMOZ/MAPMAKER) a maximum combined lod score of 6.5 was obtained for the interval D15S1039-D15S123. Recombination events and haplotype analysis define a 12-14 cM critical region between the markers D15S1039 and D15S155 on chromosome 15q15-q21.
引用
收藏
页码：1015 / 1017
页数：3
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