中文摘要：

目的：应用遗传性耳聋基因芯片对孕妇进行耳聋基因突变检测，统计常见耳聋突变的携带率。方法：选择产科门诊无听力障碍和听力异常家族史的孕妇，抽取外周血，提取基因组DNA，应用遗传性耳聋基因芯片检测4个中国人群中最常见的耳聋相关基因的9个突变热点，即GJB2（35delG、176dell6bp、235delC、299delAT）、GJB3（C538T）、SLC26A4（IVS7—2A〉G、A2168G）和线粒体DNA12SrRNA（A1555G、C1494T）。结果：共检测474例孕妇外周血，检出耳聋基因突变携带者24例（5．1％），其中GJB2杂合突变16例，SLC26A4杂合突变4例，GJB3杂合突变3例，线粒体12SrRNA突变1例。结论：常见耳聋基因突变在孕妇群体中有较高的携带率，235delC和IVs7—2A〉G杂合突变较常见。

英文摘要：

Objective： Applicating genetic deafness gene chip for detection of gene mutation of deafness in pregnant women, to study the carrying rate of common deafness mutation. Methods： The pregnant women without hearing impairment and hearing disorders fami- ly history in obstetric clinic were selected, signed the informed consent, took blood, and took extraction of genomic DNA. Application of ge- netic deafness gene chip for detecting 9 mutational hot spot of the most common 4 Chinese deafness genes, namely GJB2 （35delG, 176del16bp, 235delC, 299delAT）, GJB3 （C538T）, SLC26A4 （IVS72A 〉 G, A2168G） and mitochondrial DNA 12S rRNA （AI555G, C1494T） . Results： Peripheral blood of 474 pregnant women were detected, detection of deafness gene mutation carriers in 24 cases （5.1%）, including 16 cases of the GJB2 heterozygous mutation, 4 cases of SLC26A4 heterozygous mutation, 3 cases of GJB3 heterozygous mutation, and 1 case of mitochondfial 12S rRNA mutation. Conclusion： The common deafness genes mutation has a high carrying rate in pregnant women group, 235delC and IVS7 -2A 〉 G heterozygous mutation are common.