广西地区222例感音神经性聋患者常见耳聋基因筛查结果分析  

An Analysis of Common Gene Mutation Spots of 222 Sensorineural Hearing Loss Patients in Guangxi Province

作　　者：刘闽[1,2] 胥亮[1,2] 刘水霞[1,2] 史敏[2] 唐凤珠[2] 瞿申红[2] 梁建平[2] 陆秋天[2] 彭璐[2] 景艳[2] 李凤提[2] 

机构地区：[1]广西中医药大学研究生学院,南宁530001 [2]广西壮族自治区人民医院耳鼻咽喉科

出　　处：《听力学及言语疾病杂志》2017年第1期5-8,共4页Journal of Audiology and Speech Pathology

基　　金：国家自然科学基金(81460097);广西医疗卫生适宜技术研究与开发课题(S201421_05);广西壮族自治区卫生厅自筹经费科研课题(Z2014215及Z2015351)资助

摘　　要：目的分析广西地区222例感音神经性聋患者常见耳聋基因的突变特点,为临床防聋及治聋提供参考。方法采用晶芯?十五项遗传性聋基因检测试剂盒(微阵列芯片法)对广西地区222例感音神经性聋患者进行常见的4种耳聋基因的15个突变位点检测:GJB2(35del G、235delC、176del16、299del AT)、SLC26A4(2168A>G、IVS7-2A>G、1174A>T、1226G>A、1229C>T、1975G>C、2027T>A、IVS15+5G>A)、线粒体DNA12SrRNA(1494C>T、1555A>G)和GJB3(538C>T),对未确诊的阳性结果进行基因全序列分析。结果 222例患者中23例(10.36%,23/222)被检测出耳聋基因突变,其中,GJB2 235delC纯合突变3例(1.35%),杂合突变8例(3.60%),GJB2 35delG杂合突变2例(0.90%),GJB2 235delC/109A>G复合杂合突变2例(0.90%);SLC26A4IVS7-2A>G杂合突变2例(0.90%),SLC26A4 1229C>T纯合突变2例(0.90%),IVS7-2A>G/IVS11+47T>C/1548insC复合杂合突变2例(0.90%);GJB3 538C>T杂合突变1例(0.45%);线粒体DNA12SrRNA 1555A>G异质突变1例(0.45%);1例(0.45%)同时携带GJB2 235delC杂合突变及SLC26A4 1226G>A杂合突变。结论本组广西地区感音神经性聋患者耳聋基因突变率低于全国水平,主要以GJB2基因突变为主,其次是SLC26A4基因突变。Objective To investigate the characteristics of common deafness genes mutation from 222 sensorineural hearing loss patients in Guangxi province. Methods A deafness-related gene mutations detection kit was used to detect 15 mutation sites in four deafness-associated gfnes. A total of 222 hearing impaired patients,who were selected from January 2015 to April 2016 ,were tested. The samples that could not be diagnosed with DNA microarray were subjected to PCR and sequenced to detect other mutations. Results Among the 222 patients with sensorineural deafness,the total mutation rate was 10.36M （23/222）, including GJB2 235delc homozygous in 3 cases （1.35 %）, 235delC single heterozygous mutation in 8 cases （3.60 %）, 35delG single heterozygous mutation in 2 cases （0.90%） ,GJB2 235delC and 109 A〉G mutations in 2 cases （0.90%）, SLC26A4 1229C〉T homozygous in 2 case （0.90%） ,IVST-2 A〉G heterozygous mutation in 2 cases （0.90%）; IVST-2A〉G, IVS11＋47T〉C and 1548 insC mutations in 2 cases （0.90%）; GJB3 538C〉T heterozygous mutation in 1 cases （0.45%）; Mitochondrial 12S rRNA gene heterogeneous mutations in 1 ease （0.45%） . One of them carry both two mutations：GJB2 235 del C and SLC26A4 1226 G〉A. Gonelusion The results indicate that GJB2 and SLC26A4 were the main genes in this study, and in Guangxi province the mutation rate is significantly lower than the national average level. 3 new mutations （SLC26A4 IVSll＋47T 〉 C, 1548insC and GJB2 109A〉G）were found. There may be some rare mutations among sites or genes caused deafness in Guangxi.

关 键 词：感音神经性聋 耳聋基因 基因芯片 

分 类 号：R764.44[医药卫生—耳鼻咽喉科]