河南省100例非综合征型聋患者聋基因突变分析

Analysis of deafness-related gene mutations in 100 non-syndromic hearing loss patients in Henan province

目的:通过对河南地区非综合征型聋患者耳聋相关基因突变的分析,初步了解河南地区耳聋患者基因的突变频率和突变热点。方法:询问病史及临床检查后,收集河南地区100例非综合征型聋患者的外周血,提取基因组DNA,用Sanger测序法对患者基因组DNA的4个常见耳聋基因:GJB2基因、SLC26A4基因、GJB3基因的538C>T位点、线粒体DNA(mitochondrial,mtDNA)12SrRNA基因的1555A>G、1494C>T突变位点进行检测,并进行数据分析。结果:100例非综合征型聋患者突变基因检出率为44%,GJB2基因突变者29例,SLC26A4基因突变者13例,GJB3基因突变者0例,mtDNA12SrRNA基因突变者3例。结论:河南地区非综合征型聋患者GJB2的突变率最高,其次为SLC26A4,将为河南地区耳聋病因的鉴别提供理论依据。

Objective：To preliminarily determine the gene mutation frequency and the hotspots in Henan province,we analysed the deafness-related gene mutation in patients with non-syndromic hearing loss（NSHL）.Method：Genomic DNA samples of 100 patients with NSHL in Henan province were extracted from peripheral blood after clinical history inquiry and clinical examination,Four common deafness genes GJB2,SLC26A4,mitochondrial12 SrRNA,and GJB3 were detected by Sanger sequencing method,and then data analysis were conducted.Result：Among 100 patients with NSHL.the gene mutation frequency was 44%.In these patients,29 cases had GJB2 mutations,13cases had SLC26A4 gene mutations,and 3cases had mitochondrial 12 SrRNA mutations.Conclusion：Among the patients with NSHL in Henan province,the most frequent mutation causing hereditary deafness was mutation in GJB2,followed by SLC26A4,and it will provide a theoretical basis to determine the etiology of deafness in Henan Province.