近亲婚配致聋家系中患者GJB2和线粒体DNA 12S rRNA基因突变热点分析  

Analysis on hot spot mutations of GJB2 gene and mitochondrial DNA 12S rRNA among consanguineous induced deafness families

作　　者：杨威 付四清[2] 董家曙 王春芳[4] 陈观明[4] 

机构地区：[1]湖北省安陆市普爱医院耳鼻咽喉科,432600 [2]华中科技大学同济医学院医学遗传学系 [3]湖北省聋儿康复中心 [4]华中科技大学同济医学院附属同济医院耳鼻喉科

出　　处：《中国妇幼保健》2011年第4期554-556,共3页Maternal and Child Health Care of China

基　　金：教育部中央高校基本科研业务费专项资金资助项目〔0109510019〕

摘　　要：目的:分析GJB2和线粒体DNA12S rRNA两种常见耳聋致病基因突变热点在近亲婚配致聋家系患者中的发生频率。方法:对25个近亲结婚致聋核心家系的后代进行全面的体格检查和纯音测试,共发现患者48例,采静脉血3 ml,提取DNA,针对特定基因,进行聚合酶链式反应(Polymerase chain reaction,PCR)及限制性片段长度多态性(Restriction fragmentlength polymorphism,RFLP)分析,发现突变者测序验证。结果:发现GJB2基因235delC纯合突变1例,杂合突变3例;未发现线粒体DNA12S rRNA A1555G突变。结论:近亲结婚家系中遗传性聋多为常染色体隐性遗传,但GJB2基因235delC突变的发生率较低。Objective：To analyze the frequencies of hot spot mutations of the two common deafness gene-GJB2 and mitochondrial DNA 12S rRNA in the consanguineous induced deafness families.Methods：25 consanguineous induced deafness families received comprehensive physical examination and pure tone test,48 cases were found,3 ml venous blood samples were obtained to extract DNA,polymerase chain reaction（PCR） and restriction fragment length polymorphism（RFLP） targeted to specific genes were performed,the cases with mutation were confirmed by gene sequencing.Results：1 case was found with 235delC homozygous mutation of GJB2 gene,3 cases were found with heterozygous mutation;no A 1555G mutation was found in mitochondrial DNA 12S rRNA.Conclusion：The most of consanguineous induced deafness are autosomal recessive inheritance,but the incidence of 235de1C mutation of GJB2 gene is low.

关 键 词：耳聋 近亲结婚 常染色体隐性遗传 基因突变 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]