GJB2基因突变始祖效应对中国耳聋人群的影响  

Founder effect of mutation of GJB2 on the patients of deafness in China

作　　者：李庆忠[1] 王秋菊[1] 韩东一[1] 赵立东[1] 刘穹[1] 李丽娜[1] 杨伟炎[1] 

机构地区：[1]解放军总医院耳鼻咽喉研究所,北京100853

出　　处：《解放军医学杂志》2005年第5期394-396,共3页Medical Journal of Chinese People's Liberation Army

基　　金：国家863计划面上项目(编号2001AA221092);国家自然科学基金面上项目(编号30370782);北京市重大科技项目(编号H020220020610)资助课题

摘　　要：目的对中国耳聋患者中缝隙连接蛋白beta2(gapjunctionproteinbeta2,GJB2)基因突变情况进行筛查,探寻该基因各种突变的分布情况。方法在聋病门诊收集各种感音神经性聋患者141例,其中非综合征型耳聋135例(有家族史者17例),综合征型耳聋6例。另外收集听力正常者150例作为对照。采取PCR扩增、直接测序的方法检测GJB2基因突变。结果在耳聋患者中发现7种GJB2基因碱基改变:79G→A,109G→A,341A→G,235delC,455A→G,176-191del16和504insGCAA。79G→A纯合15例,杂合5例;341A→G纯合4例,杂合8例;109G→A纯合1例,杂合4例;235delC纯合5例,杂合6例;176-191del16杂合3例;504insGCAA杂合2例;455A→G杂合1例。结论在耳聋患者中开展GJB2基因的筛查工作可以将235delC作为一个候选突变筛查位点。Objective To determine the frequency of GJB2 mutations in the China hearing loss population, and to screen the GJB2 gene in both hearing loss and normal populations. Methods 141 patients with hearing loss and 150 normal persons (control) underwent mutation screening of single coding exon of GJB2 with bidirectional sequencing to identify sequences alterations. Results Three polymorphisms were found: 79G→A, 109G→A, and 341A→G; and four pathologic mutations were identified: 235delC, 455A→G, 176-191del16 and 504insGCAA. Conclusion The 235delC mutation was found to be the significant cause of hearing loss in Chinese population.

关 键 词：聋 基因 GJB2 DNA突变分析 连接蛋白类 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]