2型糖尿病中线粒体DNA的3316G→A和3394T→C点突变

Point mutations (3316G to A and 3394T to C) of mitochondrial DNA in type 2 diabetes

目的 了解天津地区线粒体DNA点突变 (3 2 43A→G、3 3 16G→A、3 3 94T→C和 3 42 6A→G)与 2型糖尿病的关系。方法 对无血缘关系的 478例 2型糖尿病患者进行研究 ,同时选择 43 0例无糖尿病家族史的糖耐量正常者作为对照 ,用PCR RFLP筛选点突变。结果 2型糖尿病组 3 3 16点突变发生率为2 .72 % (13 / 478) ,3 3 94点突变发生率为 2 .5 1% (12 / 478) ;两种点突变在对照组发生率分别为 0和 0 .47%(2 / 43 0 ) ,两组比较差异均有显著性 (P <0 .0 1或P <0 .0 5 )。 2型糖尿病组 3 42 6点突变发生率为 0 .42 %(2 / 478) ;对照组未见该突变 ,两组间差异无显著性。两组中皆未发现 3 2 43A→G突变。结论 线粒体DNA 3 3 16G→A和 3 3 94T→C突变与天津地区人群糖尿病的发病有关。

Objective To investigate the relationship between point mutations of mitochondrial DNA (3243A→G, 3316G→A, 3394T→C, 3426A→G)andtype2diabetesmellitus (DM) in Tianjin. Methods This study covered 478 cases with type 2 diabetes mellitus without consanguinity and 430 subjects with normal glucose tolerance without DM family history. The mutations were determined by PCR-RFLP. Results The point muation of mitochondrial DNA 3316G→A was found in 13 of 478 diabetics (2.72%), but none in controls; and thepointmutation3394T→Cwasfound in 12 of 478 patients with type 2 DM (2.51%) and 2 of 430 controls (0.47%). The incidences of these mutationshadsignificantdifferencebetween two groups (P<0.01 and P<0.05, respectively). The incidence of 3426A→G in patients with type 2 DM was 2/478(0.42%) , and none was found in controls. The mutation rate of 3426 had no significant difference between two groups. The point mutation of 3243A→G was not found in the study. Conclusion The point mutations of 3316G→A and 3394T→C in mitochondrial DNA contribute to the pathogenesis of DM in the population of Tianjin.