建立线粒体DNA中A3243G突变检测方法

A Method of Examination of A3243G Mutation in the Mitochondrial DNA

目的建立正常人血线粒体DNA中A3243G突变的检测方法。方法采集正常人血液标本,抽提DNA,设计两对启动-关闭引物,采用聚合酶链反应(PCR)扩增mtDNA的高变区I(HVI)3221-3524bp片段。结果正常人血DNA中检出A3243G突变。结论该方法可在正常人血DNA中检出A3243G突变,可作为一种临床检测方法用于人群早期检查。

Objective To establish the method of examination of A3243G mutation in the mitochondrial DNA of healthy people blood. Method We collect blood sample of healthy people, isolate DNA,design two on-off primers, amplify the fragment of 3221-3524bp in mtDNA hypervariable regions I （HVI）.Result We find A3243G mutation in the mtDNA of healthy people.Conclusion The method can be used to examine A3243G mutation in the mtDNA of healthy people,and it can be used as a clinic examination method of healthy people＇s early examination.