Phenotype-Genotype Correlation in 295 Chinese Deaf Subjects with Biallelic Causative Mutations in the GJB2 Gene
Phenotype-Genotype Correlation in 295 Chinese Deaf Subjects with Biallelic Causative Mutations in the GJB2 Gene
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295 名 GJB2 基因双等位基因突变的中国聋哑人的表型-基因型相关性
DOI：
10.1089/gtmb.2010.0192
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发表时间：
2011-09-01
影响因子：
1.4
通讯作者：
Wang, Qiu-Ju
中科院分区：
文献类型：
--
作者：
Zhao, Fei-Fan;Ji, Yu-Bin;Wang, Qiu-Ju
目的：连接蛋白26编码基因（GJB 2）是非综合征型感音神经性听力损伤（NSSHI）的主要致病基因。据报道，该基因中的100多个突变与听力损伤（HI）有关，从轻度到重度听力损失。为了准确评估GJB 2突变在中国人群中的影响，我们进行了一项横断面研究，以分析中国NSSHI患者的听觉数据。结果如下：从2004年至2008年，在中国北方7个省份招募了295例GJB 2双等位基因突变的无亲缘关系的NSSHI患者。通过v2检验比较不同基因型之间的HI水平和平均纯音测听。合并截短突变基因型的受试者比合并几种非截短突变基因型的受试者有更多的严重HI病例。研究还显示，携带C。[79G> A; 341 A> G] + [79 G> A; 341 A> G]或c. [109G> A] + [79 G> A; 341 A> G]的严重HI病例显著少于纯合子c.235 delC的参考组，而携带c. [235 delC] + [176_191del16]的重度HI病例比纯合c.235delC组多。结论：本研究首次阐明了中国人群中不同GJB 2双等位基因型与NSSHI表型之间的相关性。中国人GJB 2两个截短突变与更严重的HI相关。
Aims: The connexin 26 coding gene (GJB2) is the primary causative gene for nonsyndromic sensorineural hearing impairment (NSSHI). More than 100 mutations in this gene have been reported to be linked to hearing impairment (HI), from mild to profound hearing loss. To precisely estimate the impact of GJB2 mutations in the Chinese population, a cross-sectional study was performed to analyze the auditory data of Chinese patients with NSSHI. Results: Two hundred ninety-five unrelated patients with NSSHI with biallelic mutations in GJB2 were recruited from seven provinces in Northern China from 2004 to 2008. The levels of HI and average pure tone audiometry were compared across different genotypes by v 2 testing. The subjects with the genotypes of combined truncating mutations had more cases of severe HI than the subjects with a genotype of several nontruncating mutations. It was also revealed that subjects carrying either c.[79G > A; 341A > G] + [79G > A; 341A > G] or c.[109G > A] + [79G > A; 341A > G] had significantly fewer cases of severe HI than the reference group of homozygous c.235delC, whereas the subjects carrying c.[235delC] + [176_191del16] had more cases of severe HI than the homozygous c.235delC group. Conclusions: This is the first study to clarify the correlations between different GJB2 biallelic genotypes and NSSHI phenotype in the Chinese population. The Chinese subjects with two truncating mutations in GJB2 were shown to correlate with more severe HI.