220例女性听障患者耳聋致病基因突变分析及遗传咨询

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英文篇名：Gene mutation analysis and genetic counseling of 220 female deafness patients 作者：牛琳媛 ; 田进军 ; 陈威 ; 李艳娜 ; 蓝信强 英文作者：NIU Lin-yuan;TIAN Jin-jun;CHEN Wei;LI Yan-na;LAN Xin-qiang;Genetic Laboratory,Women and Children′s Health Care Hospital of Weihai; 关键词：遗传性耳聋 ; 基因突变 ; 遗传咨询 ; 产前诊断 英文关键词：Hereditary deafness;;Gene mutation;;Genetic counseling;;Prenatal diagnosis 中文刊名：ZYYA 英文刊名：Chinese Journal of Birth Health & Heredity 机构：威海市妇幼保健院医学遗传科; 出版日期：2019-02-25 出版单位：中国优生与遗传杂志 年：2019 期：v.27 语种：中文; 页：ZYYA201902034 页数：3 CN：02 ISSN：11-3743/R 分类号：95-97

摘要

目的了解威海本地区女性听障患者耳聋基因突变位点分布特点,根据基因检测结果提供必要的遗传咨询和产前诊断服务,以降低本地区遗传性耳聋出生缺陷率。方法采用遗传性耳聋基因芯片和基因测序技术,对威海地区220例女性听障患者进行4个常见致聋基因(GJB2、SLC26A4、GJB3和线粒体12srRNA)的突变位点分析;为遗传性耳聋患者提供相应遗传咨询;对已婚配且有生育意愿的患者丈夫进行相应基因测序;对在同一个基因上发生致病突变的夫妇,在知情同意的情况下提供产前诊断服务。结果 220例样本中101例为突变型(45.9%)。GJB2基因突变率为19.5%;SLC26A4基因突变率为20.9%;GJB3基因突变率为0.7%;线粒体12srRNA突变率为4.5%。3个家庭因夫妇同时携带相同致聋基因的突变行产前诊断,结果显示2个家庭因胎儿为致聋基因的纯合突变或复合杂合突变,在知情同意的情况下选择终止妊娠,1个家庭胎儿为致病基因携带者选择继续妊娠。结论耳聋基因检测结合遗传咨询和产前诊断是降低耳聋出生缺陷率的有效手段。
        Objective:To analyze the gene mutation characteristics of female deafness patients in Weihai. To provide genetic counseling and prenatal diagnosis according to the results of genetic testing,and to reduce the birth rate of hereditary deafness in this region. Methods:Using hereditary deafness gene detection array kits and gene sequencing,genomic DNA from 220 female deafness patients were tested for mutation analysis in GJB2、GJB3、SLC26 A4 and mtDNA 12 S rRNA genes. Genetic counseling was provided for deafness patients. Related gene sequencing was done for the deafness patients′ husbands that have fertility desires.If couple were the same gene mutation carriers,prenatal diagnosis was provided. Results:101 patients(45.9%)were found gene mutation of 4 genes. The mutation rates were 19.5%,20.9%,0.7% and 4.5% for GJB2,SLC26 A4,GJB3 and mtDNA 12 S rRNA genes,respectively. Prenatal diagnosis was performed in 3 families which couple carried the same gene mutation. Two fetuses were confirmed heterozygous or homozygous mutation and the two families chose to terminate pregnancy with informed consent.One fetus was a mutation carrier and the couple chose to continue pregnancy. Conclusion:Genetic testing combined with genetic counseling and prenatal diagnosis is an effective method to reduce the birth rate of hereditary deafness.

引文

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