位于2号染色体q23-q31区域的常染色体隐性非综合征性感音神经性听力损失（DFNB27）的一个新基因座。

A new locus for autosomal recessive non-syndromal sensorineural hearing impairment (DFNB27) on chromosome 2q23-q31.

作者信息

Pulleyn L J, Jackson A P, Roberts E, Carridice A, Muxworthy C, Houseman M, Al-Gazali L I, Lench N J, Markham A F, Mueller R F

机构信息

Molecular Medicine Unit, University of Leeds, St James's University Hospital, UK.

出版信息

Eur J Hum Genet. 2000 Dec;8(12):991-3. doi: 10.1038/sj.ejhg.5200567.

DOI:10.1038/sj.ejhg.5200567

PMID:11175289

Abstract

Non-syndromic sensorineural deafness is an extremely genetically heterogeneous condition. We have used autozygosity mapping in a large consanguineous United Arab Emirate family to identify a novel locus for autosomal recessive non-syndromic sensorineural deafness, DFNB27, on chromosome 2q23-q31, with a maximum two-point lod score of 5.18 at theta = 0 for marker D2S2257. The DFNB27 locus extends over a 17 cM region between D2S2157 and D2S2273, and may overlap the DFNA16 locus for dominantly inherited, fluctuating, progressive non-syndromal hearing loss. However, genotype data suggests that the locus is likely to be refined to between D2S326 and D2S2273 and thus distinct from the DFNA16 locus.

摘要

非综合征性感音神经性耳聋是一种基因高度异质性疾病。我们在一个来自阿拉伯联合酋长国的大家系中运用纯合性定位，确定了一个位于2号染色体2q23 - q31区域的常染色体隐性非综合征性感音神经性耳聋新位点DFNB27，在标记D2S2257处，θ = 0时最大两点连锁值为5.18。DFNB27位点在D2S2157和D2S2273之间延伸超过17厘摩区域，可能与DFNA16位点重叠，后者为显性遗传、波动性、进行性非综合征性听力损失。然而，基因型数据表明该位点可能被精确定位于D2S326和D2S2273之间，因此与DFNA16位点不同。