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目的明确14个遗传性非综合征型耳聋(NSHL)家系的致病基因并开展产前诊断。方法选取2011年5月-2016年8月来江西省妇幼保健院产前诊断中心进行遗传咨询的14个NSHL家系,对14个家系的46名成员进行基因芯片检测,检测位点为GJB2、GJB3、SLC26A4及线粒体DNA 12S rRNA 4个基因上的9个突变热点。颞部CT显示前庭水管扩大但基因芯片检测为阴性或携带SLC26A4突变的患者行SLC26A4基因测序,对需产前诊断的12个家系的孕妇行产前诊断,预测胎儿听力状态。结果 14个家系46名成员和12份胎儿羊水样本中,检出携带GJB2基因突变33例,SLC26A4已知突变19例,新发突变2例,分别为SLC26A4 1242 G>A与SLC26A4 2089A>G,线粒体DNA 12S rRNA突变3例,均为12S rRNA 1555A>G均质突变,未发现GJB3突变。结论基因芯片技术结合基因测序技术能明确大部分NSHL家系病因并提供生育指导,GJB2与SLC26A4突变为我国NSHL最常见的致病基因。
Objective To identify the causative genes of 14 hereditary non-syndromic hearing loss (NSHL) pedigrees and to conduct prenatal diagnosis. Methods Fourteen NSHL pedigrees genetically consulted in prenatal diagnosis center of MCH hospital of Jiangxi Province from May 2011 to August 2016 were selected for gene chip detection of 46 members of 14 pedigrees with GJB2 and GJB3 , SLC26A4 and mitochondrial DNA 12S rRNA gene mutations in nine hot spots. Prenatal diagnosis of prenatal diagnosis of 12 families of prenatal diagnosis of fetal prenatal diagnosis of fetus hearing status by temporal CT showed SLC26A4 gene sequencing in patients with vestibular aqueduct but gene chip negative or carrying SLC26A4 mutations. Results Among 46 samples of 14 pedigrees and 12 fetuses, there were 33 cases of GJB2 gene mutations, 19 cases of SLC26A4 mutations and 2 cases of new mutations, which were SLC26A4 1242 G> A and SLC26A4 2089A> G, respectively. Mitochondrial DNA 12S rRNA mutations in 3 cases, were 12S rRNA 1555A> G homogeneous mutation, found no GJB3 mutation. Conclusion Gene chip technology combined with gene sequencing technology can identify the cause of most NSHL pedigrees and provide fertility guidance. GJB2 and SLC26A4 mutations are the most common pathogenic genes in NSHL in China.