延安市宝塔区耳聋人群耳聋基因突变调查分析

The investigation and analysis of the hereditary deafness associated genes in Yan′an

目的调查延安市宝塔区非综合征型耳聋(non-syndromic hearing loss,NSHL)人群耳聋相关基因的突变情况,了解导致延安市宝塔区耳聋人群致病的主要突变基因,为后续该地区开展临床治疗及基因预防检测提供数据依据。方法对297例受检者进行相应临床检测排除外伤等致病因素导致的耳聋及综合征型耳聋,筛选出146例NSHL人群采集外周静脉血2mL,应用微阵列芯片法对我国常见的四个耳聋相关基因GJB2,SLA26A4,线粒体12SrRNA,GJB3相对应的9个突变位点进行检测。结果146例NSHL人群中突变基因携带者45例,检出率为30.82%。其中携带GJB2基因突变者25例,检出率17.12%;SLC26A4基因突变者17例,检出率为11.64%;线粒体DNA12SrRNA基因突变者3例,未发现GJB3基因突变者。结论本次研究结果显示GJB2是导致延安市宝塔区NSHL人群致聋致病的主要突变基因,SLC26A4亦具有较高突变率,235delC和IVS7-2A>G分别为其主要突变位点;延安市耳聋人群四个耳聋基因突变情况同全国存在差异,需要进行进一步筛选。

Objective To investigate the mutations in deafness-related genes in non-syndromic hearing loss (NSHL) population in Baota District,Yan'an City,and to understand the major mutations that cause disease in deaf people in Baota District,Yan'an City.The study provides data for subsequent clinical and gene prophylaxis testing in the region.Methods 297 cases of patients were subjected to corresponding clinical tests to rule out deafness and syndrome-type deafness caused by traumatic factors such as trauma.146 cases of NSHL were selected to collect 2 mL of peripheral venous blood,and micro-array method was used to correlate four common deafness in China.The gene GJB2,SLA26A 4,mitochondrial 12SrRNA,and GJB3 correspond to 9 mutation sites.Results Of the 146 patient,45 showed gene mutation,the total detection rate was 30.82%.Among these patient,25 cases had GJB2 muations,the detection was 17.12%;17 cases had SLC26A4 mutations,the detection was 11.04%;3 cases had mitochondria 12SrRNA mutations,the detection was 2.05%;not found GJB3 mutations.Conclusion GJB2 is the capital virulence genes of NSHL patient in Yan'an,235delC is the main mutation form of GJB2 gene.SLC26A4 was the second virulence genes which also had higher mutation rate.There are four deafness gene mutations in Yan'an deaf population different from the results of the national survey,which need further screening.