新疆维吾尔族非综合征性遗传性聋GJB2基因突变的研究  

Study on nonsyndromic hereditary hearing impairment mutations of GJB2 gene in Uyghur patients in Xinjiang

作　　者：李彦华[1] 关宏恩[1] 徐红霞[2] 李惠武[3] 李卉[3] 魏妍慧[1] 亚生江[1] 龚建齐[1] 

机构地区：[1]新疆医科大学附属中医医院耳鼻咽喉科,乌鲁木齐830000 [2]新疆医科大学2007级研究生 [3]新疆医科大学基础医学院科研中心地方病分子生物学重点实验室

出　　处：《临床耳鼻咽喉头颈外科杂志》2010年第13期604-607,612,共5页Journal of Clinical Otorhinolaryngology Head And Neck Surgery

基　　金：新疆维吾尔自治区自然科学基金项目(No:200721117);国家自然科学基金项目(No:30860358)

摘　　要：目的:研究新疆维吾尔族非综合征性遗传性聋患者GJB2基因突变的情况。方法:采用直接测序法对新疆维吾尔族非综合征性遗传性聋患者43例和健康对照46例进行GJB2基因突变的检测。结果:在编码区耳聋组共发现6种碱基改变:380G>A、109G>A、235 delC、233delC、71G>A及35 delG,其中235 delC杂合突变1例,233 delC纯合突变2例,35 delG杂合突变2例;对照组发现6种碱基改变,其中5种为已明确的常见多态性改变。结论:新疆维吾尔族非综合征性遗传性聋患者GJB2基因突变检出率较低,具有种族和地域性特点。Objective：To study mutations in the GJB2 gene in Uyghur patients with nonsyndromic hearing impairment from Xinjiang.Method：Forty-three cases with nonsyndromic hearing impairment and 46 adults with normal hearing were performed mutational analysis of the GJB2 coding region by PCR-direct sequencing.Result：Six kinds of mutation have been found in the encoding region of hearing impairment group： 380GA,109GA,235 delC,233 delC,71GA,35 delG,of which one 235 delC case is heterozygotes mutation,two 233 delC are homozygotes mutation and two35 delG are heterozygotes mutation.Six kinds of mutations have been found in the normal hearing group,of which 5 kinds are confirmed common polymorphic mutation.Conclusion：The GJB2 gene mutation detection rate in the Uyghur deaf population of Xinjiang Province is lower than other province,which has ethnic and regional characteristics.

关 键 词：聋 遗传性 GJB2 基因突变 维吾尔族 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]