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目的通过统一的调查、标本采取和基因筛查方法进行全国性重度感音性耳聋的分子流行病学调查和研究。方法通过标准化的流行病学调查设计、行政组织、标本采取和GJB2 235delC和线粒体DNA 12SrRNA A1555G筛查方法进行全国18个省市自治区的重度感音神经性耳聋患者的一般情况和常见分子病因学调查。结果收集来自18个省市2065例重度至极重度感音神经性耳聋病例,其中非综合征性耳聋病例2016例,筛查出线粒体 DNA 12SrRNA A1555G突变病例57例,GJB2 235纯合突变148例,GJB2杂合突变157例。调查显示在中国各地, 线粒体DNA 12SrRNA A1555G和GJB2 235delC突变相关性耳聋占有较高的比例,同时各地区间检出率差异较大。结论在中国广大地区的重度神经性耳聋患者中,常见突变引起的遗传性耳聋占有较大的比例,基因筛查方法是进行耳聋病因流行病学调查的有用工具。
Objective To investigate and investigate the molecular epidemiology of national severe degree deafness through unified investigation, specimen collection and gene screening. Methods The general situation and common molecular etiological investigation of patients with severe sensorineural hearing loss in 18 provinces and autonomous regions of China were investigated through standardized epidemiological survey design, administrative organization, specimens taken and GJB2 235delC and mitochondrial 12SrRNA A1555G screening methods . Results A total of 2065 cases of severe neurosensory deafness were collected from 18 provinces and cities. Among them, 2016 cases of non-syndromic deafness were screened out 57 cases of mitochondrial 12SrRNA A1555G mutation, 148 cases of GJB2 235 homozygous mutation and GJB2 157 cases of heterozygous mutation. The survey shows that in China, mitochondrial 12SrRNA A1555G and GJB2 235delC mutation-related deafness occupy a higher proportion, while the detection rate varies greatly across regions. Conclusions Among the patients with severe neurological deafness in China, a large proportion of hereditary deafness caused by common mutations occupy a large proportion. Gene screening method is a useful tool for epidemiological investigation of etiology of deafness.