孕期妇女常见耳聋基因突变的筛查.pdfVIP

中华医学遗传学杂志2015年6月第32卷第3期Chin J Med Genet，June 2015，V01．32，No．3 孕期妇女常见耳聋基因突变的筛查 邵敏杰 刘平 赵楠 钟粟 赵扬玉 魏媛 【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 mI。，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—2AG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—2AG和GJB3 538CT双杂合突变检出1例，突变率为 0．11％；IVS7—2AG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。 【关键词】遗传性耳聋； 基因芯片； 产前检测 Screening of common deaf genes in pregnant women and prevention of deafness at birth Shao Minjie，Liu Ping，Zhao Nan，Zhong Su，Zhao Yangyu，Wei Yuan．(Department of Reproductive Medicine Center， the Third Hospital of Peking University，Beijing 100191，P．R．China) (?o¨rPs户o”dig author：Liu Ping，Email：pingliu7703@sina．coin [Abstract]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—2AG 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 1 2S rRNA heterozygous mutation， with a mutation rate of 0．22％．IVS7—2AG with GJB3 538CT double heterozygous mutation was detected in 1 case。and IVS7—2AG with GJB2 299A—T double heterozygous mutation was detected in another case，with the mutation rate of each being 0．1 1％．DNA