新疆维吾尔族及汉族常见耳聋基因热点突变调查结果分析比较  

Epidemiological analysis of nonsyndromic hearing loss among 2,731 Uygur and Han patients in XinJiang

作　　者：孙捷[1] 陈俞[1] 张华[1] 温浩[1,2,3] JieSun;YuChen;HuaZhang;HaoWen(Department of Otorhinolaryngology, First Affiliated Hospital of Xinjiang Medical University, Urumqi, 830011, China;Centre of Hydatid Prevention, Diagnosis and Treatment, First Affiliated Hospital of Xinjiang Medical University Urumqi 830000, Chin;Xinjiang Hydatid Clinical Research Institute Urumqi 830000, China)

机构地区：[1]新疆医科大学第一附属医院耳鼻咽喉头颈外科学,乌鲁木齐83000 [2]新疆医科大学第一附属医院包虫病防诊治中心 [3]新疆包虫病临床研究所

出　　处：《中华耳科学杂志》2017年第2期229-233,共5页Chinese Journal of Otology

基　　金：新疆维吾尔自治区科技厅自然科学基金2013211A102~~

摘　　要：目的探讨新疆地区维吾尔族和汉族常见耳聋基因流行病学的差异。方法本文针对新疆地区2731例非综合征型重度、极重度感音神经性耳聋患者,应用晶芯耳聋基因试剂盒,对GJB2、SLC26A4、线粒体12Sr RNA、GJB3常见耳聋基因的10个突变位点(GJB2c.235del C、c.35del G、c.176del16bp、c.299_300del AT,SLC26A4 IVS7-2、c.2168A>G,GJB3 c.538C>T、c.547G>A,mitochondrial 12Sr RNA m.1555A>G、m.1494C>T)进行常见已知耳聋基因的抽样调查;结果 2731例新疆地区非综合征型重度、极重度感音神经性耳聋患者中,GJB2基因突变率7.84(214/2731),汉族10.56%(131/1241)、维吾尔族5.57%(83/1490),普遍低于全国其他研究报道,GJB2 c.235del C是汉族和维吾尔族突变热点;检出携带有SLC26A4基因突变的有132例,SLC26A4汉族、维吾尔族耳聋人群检出率分别9.51%(118/1241)、0.94%(14/1490);检出携带有12Sr RNA基因突变的有149例,汉族120例,维吾尔族29例,占各自耳聋人群检出率的9.67%(120/1241)、1.95%(29/1490)。结论 GJB2基因、SLC26A4、线粒体基因12Sr RNA为新疆非综合征型耳聋常见致病基因,GJB2c.235del C是汉族和维吾尔族突变热点,携带杂合突变的耳聋患者可能有其他基因突变致聋的可能。Objective To report results of an epidemiological analysis of nonsydromic autosomal dominant hearingloss using a gene screening kit for the GJB2,SLC26A4,mitochondrial12SrRNA and GJB3genes.Methods In this study,we screened for GJB2,SLC26A4,mitochondrial12SrRNA and GJB3gene mutations in2,731cases of severe non-syndromicsensorineural deafness in Xinjiang using a gene screening kit.Results The overall detection rate of GJB2genemutations was7.84%(214/2,731):10.56%(131/1,241)among the Han patients and5.57%(83/1,490)among the Uighurpatients.The rate of SLC26A4mutations was9.51%(118/1,241)among the Han patients and0.94%(14/1,490)among Uygur patients,respectively.12SrRNA gene mutations were seen in149cases(Han:n=120or9.67%;Uygur:n=29or1.95%).Conclusion Mutations of the GJB2,SLC26A4and12SrRNA genes are common causes of non-syndromic hearing loss in Xinjiang.GJB2c.235delC is the mutation hot spot among both Hans and Uygurs.Other pathogenic genesmay also exist in heterozygous mutation deafness patients.

关 键 词：遗传性耳聋 耳聋基因 基因检测 

分 类 号：R764[医药卫生—耳鼻咽喉科]