遗传性耳聋基因芯片检测在孕妇携带者筛查中的应用  

The applied research of deafness-related gene mutations microarray detection in pregnant women carriers screening

作　　者：李倩倩[1] 陈文丽 苗艳 赵炜[3] 李朔[3] 俞冬熠[3] LI Qian-qian;CHEN Wen-li;MIAO Yan;ZHAO Wei;LI Shuo;YU Dong-yi(Department of Genetics and CellBiology, Basic Medical College, 308 Ningxia Road, Qingdao University, Qingdao, China, 266071;Genetic Testing Center, Qingdao Women and Children＇s Hospital, Qingdao University, Qingdao, China, 266011;Laoshan Women ＆ Children ＇s Health Care and Family Planning Service Center, Qingdao, China, 266101)

机构地区：[1]青岛大学基础医学院遗传学与细胞生物学系,青岛266071 [2]青岛市崂山区妇幼保健计划生育服务中心,青岛266101 [3]青岛市妇女儿童医院青岛大学附属妇女儿童医院基因检测中心,青岛266011

出　　处：《中国优生与遗传杂志》2018年第6期108-110,118,共4页Chinese Journal of Birth Health & Heredity

摘　　要：目的通过对青岛市听力正常孕妇进行常见耳聋致病基因突变位点的检测,明确本市孕妇耳聋基因突变位点携带情况,为进一步采取措施降低耳聋患儿出生率提供依据。方法采用微阵列芯片技术,对青岛市崂山区655名孕妇进行常见的4个耳聋致病基因GJB2、GJB3、线粒体DNA 12SrRNA、SLC26A4的15个常见突变位点的筛查。结果本研究中听力正常且无耳聋家族史孕妇655人,检出耳聋基因突变携带者53例(8.1%),其中GJB2基因杂合突变携带者25例(3.8%),SLC26A4基因杂合突变携带者23例(3.5%),GJB3基因杂合突变携带者3例(0.5%),线粒体DNA12SrRNA均质突变携带者2例(0.3%)。GJB2基因235 del C杂合突变携带频率最高,为2.4%,SLC26A4基因IVS7-2 A>G杂合突变携带频率位居第二,为1.8%。结论对听力正常孕期女性开展耳聋基因突变位点筛查,可为育龄父母提供产前咨询,在预防和控制遗传性耳聋中起重要作用。Objective：To evaluate the type and frequency of mutations in common deafness-related genes and to help reducing the birth rate of hearing loss children,the deafness mutations screening were carried out within pregnant population without deafness in Qingdao. Methods：DNA Microarray were used for screening fifteen mutant loci in four deafness-related genes,including GJB2,GJB3,the mitochondrial of DNA 12 SrRNA and SLC26 A4 within 655 pregnant women in Laoshan,Qingdao. Results：Among the 655 pregnant women without deafness or deaf history collected for this study,53 were found out to be carriers of different mutations,the detection rate was 8.1%.About half（25,3.8%）of the carriers have heterozygous mutations in GJB2 gene,23（3.5%）were found with SLC26 A4 gene heterozygous mutations,3（0.5%）were detected as the GJB3 gene heterozygous mutations carriers,and only 2（0.3%）with mitochondrial 12 SrRNA homozygous mutations.Among them,the GJB2 235 del C heterozygous mutation and the SLC26 A4 IVS7-2 A〉G heterozygous mutation were the top two most common mutations,accounting for 2.4% and 1.8% of the carriers respectively. Conclusion：Screening of deafness-related gene mutations among pregnant women without deafness can not only provide antenatal counseling for childbearing age women but also play an important role in prevention and blocking of genetic deafness.

关 键 词：耳聋 基因突变 孕妇 产前诊断 

分 类 号：R764.4[医药卫生—耳鼻咽喉科]