中文摘要：

目的为50个无家族遗传史的聋儿家庭寻找可能的致聋基因突变,为这些家庭的再生育计划予以指导并进行风险评估。方法通过受检者静脉血提取基因组DNA,应用直接测序技术对GJB2、SLC26A4、线粒体DNA12Sr RNA的1494和1555等3个基因进行分析。结果 50个家庭中明确遗传倾向的有22家,其中GJB2基因突变者12家,突变方式有235del C、176del16bp、299_300del AT、257C〉G、427C〉T、189del14bp、605ins46bp等;SLC26A4基因突变者10家,突变的方式有IVS7-2A〉G、2168A〉G、317C〉A、413-414del T、589G〉A、IVS15＋5G〉A、1229C〉T、1594A〉C、1975G〉C、2027T〉A。结论即使没有家族史,聋儿家庭再生育前也须行基因诊断,以降低再生育聋儿的风险。

英文摘要：

Objective To identify possible gene mutations in 50 families with children suffering from hearing loss to as- sess risk of hearing impairment in future pregnancies and hopefully provide guidance for their birth plans. Methods Genomic DNA was extracted from peripheral blood. Sanger sequencing techniques were utilized to analyze GJB2, SLC26A4, mitochon- drial DNA 12SrRNA 1494 and 1555. Results Gene mutations were found in 22 of the 50 families, of which 12 showed GJB2 gene mutations （235 del C, 176 del 16bp, 299_300 del AT, 257 C〉G, 427 C〉T, 189 del 14bp, 605 ins 46bp） and 10 showed SLC26A4 gene mutations （IVS7-2 A〉G, 2168 A〉G, 317 C〉A, 413-414 del T, 589 G〉A, IVS15＋5 G〉A, 1229 C〉T, 1594 A〉 C, 1975 G〉C, 2027 T〉A）. Conclusion Even without clear hereditary history, families with hearing loss children can benefit from gene analysis for future birth risk assessment.