苏州阳澄湖地区非综合征型遗传性耳聋的特点与分析

Characteristics and Analysis of Non-syndromic Hereditary Deafness in YangCheng Lake,Suzhou

目的检测并分析苏州阳澄湖地区非综合征型遗传性耳聋家系常见的基因突变位点。方法采集6个重度感音神经性听力下降先证者家系(6例重度耳聋患者及其直系家庭成员共21名)的临床信息及外周静脉血,对GJB2、SLC26A4、线粒体DNA-12S rRNA及GJB3共4种常见基因的20个高发突变位点进行筛查,并结合临床资料进行相关性分析。结果 21例样本检测结果中14例阳性,均为线粒体DNA-12S rRNA基因发生1555A>G突变。结论苏州阳澄湖地区非综合型遗传性耳聋家系中线粒体基因突变高发,最常见的突变为线粒体DNA-A1555G,有必要开展大规模生育前耳聋基因筛查来进一步调查验证。

Objective to detect and analyze common gene mutation sites in non-syndromic hereditary deafness families in Yangcheng Lake,Suzhou.Methods We collected clinical information and peripheral venous blood from 6 families of probands with severe sensorineural hearing loss (6 patients with severe deafness and their immediate family members),20 high-risk mutation sites of 4 common genes (GJB2,SLC26A4,mitochondrial DNA 12S rRNA and GJB3) were screened,and the correlation analysis was carried out based on clinical data.Results 14 of the 21 samples were positive,all of which had 1555A>G mutation in mitochondrial DNA 12S rRNA gene.Conclusion There is high incidence of mitochondrial gene mutations in families with non-comprehensive hereditary deafness in Yangcheng Lake,Suzhou.The most common mutation is mitochondrial DNA A1555G.It is necessary to carry out mass birth deafness gene screening for further investigation and verification.