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目的利用遗传性耳聋基因芯片对听力正常的孕期女性进行常见耳聋基因突变的筛查,评估其临床筛查的意义及应用价值。方法在知情同意原则下,抽取孕妇外周血并提取DNA,用遗传性耳聋基因芯片检测GJB2、GJB3、SLC26A4和线粒体DNA12Sr RNA等4个中国人群常见遗传性耳聋基因共9个常见突变位点。根据检测结果对孕妇进行优生咨询及生育指导。结果 32 870例接受检测的孕期女性当中,共筛查出携带常见耳聋基因突变者1605例(4.88%),其中848例为GJB2突变携带者,566例为SLC26A4突变携带者,81例为线粒体DNA12Sr RNA突变携带者,110例为GJB3突变携带者。4对夫妇同时为GJB2突变携带者,其中3对夫妇同意行介入性产前诊断,确认1对夫妇的胎儿为GJB2纯合突变,另一对夫妇没有进行产前诊断,出生后随访其孩子听力筛查没过关,建议对孩子进行基因检测,进一步确诊。结论常见遗传性耳聋基因在孕期女性人群携带率较高,GJB2 235del C杂合突变最常见,可把遗传性耳聋基因检测作为产前筛查项目之一,初步实现遗传性耳聋的预防,有效减少聋儿的出生。
Objective To screen the gene mutation of common deafness in pregnant women with normal hearing by gene chip of hereditary deafness to evaluate the significance and value of clinical screening. Methods According to the principle of informed consent, peripheral blood from pregnant women was extracted and DNA was extracted. Nine gene mutations of common hereditary deafness genes of GJB2, GJB3, SLC26A4 and mitochondrial DNA 12Sr RNA were detected by genetic deafness gene chip. According to the test results for pregnant women eugenic counseling and fertility guidance. Results A total of 1605 pregnant women (4.88%) with mutations of common deafness were screened out among 32 870 pregnant women. Among them, 848 were carriers of GJB2 mutation, 566 were carriers of SLC26A4 mutation and 81 were mitochondrial DNA 12Sr RNA mutation carriers, 110 cases of GJB3 mutation carriers. Four couples were also carriers of GJB2 mutations. Three of the couples agreed to have an interventricular prenatal diagnosis, confirming that one fetus had a GJB2 homozygous mutation and the other had no prenatal diagnosis. All children were followed up for hearing No screening clearance, it is recommended to carry out genetic testing of children, further diagnosis. CONCLUSION: Common genetic deafness gene carriers have a higher carrying rate in female during pregnancy. GJB2 235del C heterozygote mutation is the most common. Genetic hereditary deafness can be used as one of prenatal screening items to preliminarily prevent and reduce effectively genetic deafness Birth of deaf children.