孕期妇女常见耳聋基因突变的筛查  

Screening of common deaf genes in pregnant women and prevention of deafness at birth

作　　者：邵敏杰[1] 刘平[1] 赵楠[1] 钟粟[1] 赵扬玉[1] 魏媛[1] 

机构地区：[1]北京大学第三医院生殖医学中心,100191

出　　处：《中华医学遗传学杂志》2015年第3期339-342,共4页Chinese Journal of Medical Genetics

摘　　要：目的 确定孕期妇女常见耳聋基因突变的携带率,预防耳聋患者出生.方法 抽取893名孕妇的外周静脉血2 mL,提取DNA,应用耳聋基因芯片进行筛查.对于筛查结果为阳性的孕妇,同时对其配偶进行基因测序.结果 在893名孕妇中,有40例检出存在耳聋基因位点的杂合或均质突变,检出率为4.48％,其中以GJB2 235delC杂合突变最常见,共检出18例,突变率为2.02％;GJB2 299A-T杂合突变检出7例,突变率为0.78％;IVS7-2A＞G杂合突变检出9例,突变率为1.02％;GJB3和线粒体12S rRNA杂合突变各检出2例,突变率均为0.22％;IVS7-2A＞G和GJB3 538C＞T双杂合突变检出1例,突变率为0.11％;IVS7-2A＞G和GJB2 299A-T双杂合突变1例,杂合突变率为0.11％.经测序,未发现夫妻存在同一耳聋基因的突变.随访新生儿听力均正常.结论 在正常孕妇中开展耳聋基因的筛查,对预防聋儿出生具有重要的价值.Objective To determine the carrier rate for common mutations causing deafness among pregnant women in order to prevent births of deaf children.Methods For 893 pregnant women,2 mL peripheral venous blood was taken and DNA was extracted.A deafness DNA microarray screening was applied to such samples,and DNA sequencing was applied to husbands of women with positive screening results.Results A total of 40 carriers were detected,with the overall mutation rate being 4.48%.Among such carriers,GJB2 235delC was the most common heterozygous mutation （18 cases） and the mutation rate was 2.02%.GJB2 299A T heterozygous mutation was detected in 7 cases with a mutation rate of 0.78%.IVS7-2A〉G heterozygous mutation was detected in 9 cases with a mutation rate of 1.02%.There were 2 cases carrying GJB3 heterozygous mutation and 2 cases of mitochondrial 12S rRNA heterozygous mutation,with a mutation rate of 0.22%.IVS7-2A 〉 G with GJB3 538C〉 T double heterozygous mutation was detected in 1 case,and IVS7-2A〉G with GJB2 299A-T double heterozygous mutation was detected in another case,with the mutation rate of each being 0.11%.DNA sequencing has failed to find presence of mutations in the same gene in the husbands.The results of neonatal hearing follow-up were all normal.Conclusion Applications of the deaf genes screening in pregnant women may play prove to be valuable for the early detection for neonatal deafness.

关 键 词：遗传性耳聋 基因芯片 产前检测 

分 类 号：R734.2[医药卫生—肿瘤]