29个近亲结婚致聋核心家系GJB2、SLC26A4和线粒体DNA12SrRNA基因分析

Genetic Analysis of GJB2 Gene,SLC26A4 and Mitochondrial DNA 12SrRNA in Twenty-Nine Deafness Probands in the Consanguineous Marriage Pedigrees

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 mutational features of the three common deafness gene GJB2, SLC26A4 and Mitochondrial DNA 12SrRNA A1 555G in the consanguineous marriage pedigrees. Methods The common deafness gene coding sequences were amplified by polymerase chain reaction （PCR） with corresponding primers, and the PCR products were performed to be sequenced and analyzed with DNA Star software. Results Only one homozygous mutation and four heterozygous mutations were detected. Conclusion The consanguineous marriage pedigrees were the precious resource in China,and should be protected and utilized them reasonably.