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目的分析GJB2、SLC26A4和线粒体DNA12SrRNA三种常见耳聋致病基因在近亲婚配家系先证者中的突变特点。方法对29个近亲结婚致聋核心家系的后代进行全面的体格检查,采取静脉血10ml,提取DNA,针对特定基因,进行聚合酶链式反应(polymerase chain reaction,PCR)并测序。结果GJB2基因检测结果:299-300del AT纯合突变1人,79G>A突变21人,341A>G突变15人,109G>A杂合突变3人,558G>A突变1人,5人未检测到突变。SLC26A4基因H723R杂合突变1人;线粒体DNA12SrRNA A1555G纯合突变1人,并伴有GJB2基因79G>A和341A>G多态表现。结论近亲结婚家系遗传性聋的发生率较高。
Objective To analyze the mutation characteristics of three common deafness genes of GJB2, SLC26A4 and mitochondrial DNA12SrRNA in probands of kinship families. Methods A total of 29 offspring of the deaf and nuclear families of 29 kin of inbreeding were subjected to a comprehensive physical examination. DNA was extracted from 10 ml venous blood and subjected to polymerase chain reaction (PCR) and sequencing for specific genes. Results The results of GJB2 gene test showed that there was 1 homozygous mutation in 299-300del AT, 21 mutations in 79G> A, 15 mutations in 341A> G, 3 heterozygous mutations in 109G> A, 1 mutation in 558G> A and 5 undetectable To mutation. SLC26A4 H723R heterozygous mutation of a person; Mitochondrial DNA12SrRNA A1555G homozygous mutation of a person, accompanied by GJB2 gene 79G> A and 341A> G polymorphism. Conclusion The incidence of hereditary deafness in kinship with relatives is high.