甘肃省375例非综合征型聋患者聋病易感基因突变检测分析

The Detection of Deafness Predisposing Genes Mutation in 375 Nonsyndromic Hearing Loss Patients from Gansu Province

段世宏;郭玉芬;冯秀云;刘增平;袁逸铭;李勇;

1:兰州大学第二医院耳鼻咽喉头颈外科

2:甘肃省武威市中医院

摘要
目的通过对甘肃省部分非综合征型聋患者进行聋病易感基因筛查,从分子水平了解其遗传病因及特点。方法采集甘肃省375例非综合征型聋患者的外周静脉血510ml,提取基因组DNA,运用SNPscan技术检测GJB2基因2个外显子36个突变位点、SLC26A4基因21个外显子77个突变位点和mtDNA12SrRNA A1555G及C1494T突变。结果 375例非综合征型聋患者中,23例携带mtDNA12SrRNA A1555G均质性突变(6.13%,23/375),2例携带mtDNA12SrRNA C1494T均质性突变(0.53%,2/375);检出GJB2基因突变致聋者42例(11.20%,42/375),其中纯合突变31例(8.27%,31/375)、复合杂合突变11例(2.93%,11/375),GJB2基因单杂合突变携带者25例(6.67%,25/375),c.235delC为最常见的突变类型,等位基因频率为8.80%(66/750);检出SLC26A4基因突变致聋者29例(7.73%,29/375),其中纯合突变17例(4.53%,17/375)、复合杂合突变12例(3.20%,12/375),SLC26A4基因单杂合突变携带者14例(3.73%,14/375),c.919-2A>G和c.2168A>G为其最主要的突变类型,等位基因频率分别为5.20%(39/750)和2.0%(15/750)。结论甘肃省部分非综合征型聋患者mt DNA12SrRNA A1555G突变检出率明显高于全国水平(2.83%,57/2016),而GJB2、SLC26A4基因突变检出率与全国水平相近;三个常见聋病易感基因筛查可为25.60%的本组耳聋患者提供明确的分子病因学诊断。
关键词
非综合征型聋;突变;基因
基金项目(Foundation):
甘肃省自然科学基金(1606RJZA020)资助
作者
段世宏;郭玉芬;冯秀云;刘增平;袁逸铭;李勇;
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