GJB2基因235delC突变的携带者检测与产前诊断  

Carrier testing and prenatal diagnosis of the common GJB2 235delC mutation

作　　者：陈观明[1] 付四清[2] 董家曙 崔永华[1] 杨渝珍[4] 

机构地区：[1]华中科技大学同济医学院附属同济医院耳鼻咽喉科,湖北武汉430030 [2]华中科技大学同济医学院医学遗传研究室 [3]湖北省聋儿康复研究中心 [4]华中科技大学同济医学院生化与分子生物学系

出　　处：《中国妇幼保健》2007年第17期2385-2386,共2页Maternal and Child Health Care of China

摘　　要：目的:编码缝隙连接蛋白26的基因突变是导致语前常染色体隐性遗传非综合征聋的主要原因。其中一特异性突变235delC是中国人最常见的突变。本研究将为此类语前聋的产前诊断开辟1条新途径。方法:采用PCR及限制性片段长度多态性分析,对38对夫妇进行235delC突变检测,并通过羊膜穿刺术或绒毛取样术对4个胎儿进行了该位点的突变检测。结果:在38对夫妇中,GJB2基因235delC突变携带者占26.32%;4对夫妇要求做产前诊断,3个胎儿为携带者,1个为阴性结果;结论:此方法经济可靠,是进行此类语前聋携带者检测与产前诊断的有效途径。Objective： Mutations in the gene encoding the gap -junction protein connexin 26 （GJB2） on chromosome 13qll （DFNB1 locus） have been shown as a major contributor to prelingual, non -syndromic, autosomal recessive deafness in different ethnic backgrounds. One specific mutation, 235delC, is one of the most frequent disease mutations identified to date in China. The purpose of this study was to open the way to prenatal diagnosis of prelingual deafness. Methods： 38 couples requested DFNB1 cartier testing before or during pregnancy and/or prenatal diagnosis at this department. PCR was used to amplify the entire coding region of GJB2 gene and digest the PCR products with ApaI enzyme to analyze 235delc mutation. Four fetuses were also deteted. Results： Twenty adults of 38 couples were positive for 235delC mutation, accounting for 26. 32% （20/76）. Four fetuses were tested totally; three fetuses were carriers, one was negative for this mutation. Conclusion： Using PCR and restriction endonuclerase to analyze 235del C mutation in this gene is easy and feasible for cartier testing and prenatal diagnosis of DFNB 1 deafness.

关 键 词：产前诊断 GJB2基因 突变 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]