一个2型糖尿病家系的线粒体基因nt3426 A→G突变分析

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

目的 了解线粒体 DNA ND1nt342 6 A→ 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 消化进行点突变筛选 ,并收集家系的临床资料。结果 2 1名家系成员中 12名母系亲属均存在 nt342 6 A→ 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 ND1基因 nt342 6 A→ 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 )

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 legnth polymorphsim.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 A→G. Conclusion The point mutation nt3426 A→G of mitochondrial DNA ND1 may not be an independent factor to cause type 2 DM.