一个2型糖尿病家系的线粒体基因nt3426 A→G突变分析

目的 了解线粒体DNA NDI nt3426A→G点突变在一个2型糖尿病家系中的发生情况及临床特点。方法 提取家系成员外周血DNA，用聚合酶链反应扩增、限制性内切酶Apa I消化进行点突变筛选，并收集家系的临床资料。结果 21名家系成员中12名母系亲属均存在nt3426A→G突变，而在配偶及父系亲属中未发现该突变。12名突变者中包括2型糖尿病患者7人、糖耐量减低者1人、空腹血糖受损者1人及糖耐量正常者3人。结论 线粒体DNA NDl基因nt3426A→G突变是该家系中糖尿病的易感因素，可协同其他因素(如肥胖、增龄、不良生活习惯等)共同参与糖尿病的发生。

Study on a new point mutation of nt3426 A→G of mitochondrial DNA in a diabetes mellitus family

OBJECTIVE: To elucidate the relationship between point mutations of nt3243A --> G, nt3426 A --> G of mitochondrial DNA and type 2 diabetes mellitus(DM). METHODS: Two hundred patients with type 2 DM and 180 controls with normal glucose tolerance and absence of DM family history were included. The mutations were determined by PCR-restriction fragment length polymorphism. RESULTS: The point mutation nt3426A --> G of mitochondrial DNA ND1 was found in 2 of the patients with type 2 DM (1.0%) but in none of the controls (0). The incidence of this mutation showed no significant difference between the two groups(P>0.05). And none was found to have the mutation of nt3243 --> G. CONCLUSION: The point mutation nt3426 A --> G of mitochondrial DNA ND1 may not be an independent factor to cause type 2 DM.