2型糖尿病与线粒体tRNA^(leu(UUR))基因变异

Type 2 Diabetes Mellitus and Variants in Mitochondrial tRNA^(leu(UUR))

目的探讨线粒体tRNAleu(UUR)基因3243(A→G),3256(C→T),3290(T→C)3个位点的突变与武汉地区2型糖尿病的关系。方法采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)对326名个体(156例2型糖尿病患者,170例健康对照)的线粒体tRNAleu(UUR)基因3243(A→G),3256(C→T),3290(T→C)3个位点进行筛选,对突变位点用直接测序方法进行确证。结果两组均未检出3243(A→G),仅在糖尿病组检出3290(T→C)和3256(C→T)突变各1例。两组间突变频率差异无统计学意义。结论线粒体tRNAleu(UUR)基因3243(A→G),3256(C→T),3290(T→C)突变可能不是武汉地区2型糖尿病的突变热点。

Objective To explore the relationship between variants in mitochondrial tRNA^leu（UUR） and and type 2 diabetes mellitus （T2DM） in Wuhan. MeTHods First,PCR restriction fragment length polymorphism （PCR-RFLP） analysis was used to screen point mutations of tRNA^leu（UUR） （3243,3256,3290） in 326 unrelated individuals （ 156 T2DM, 170 controls）, followed by direct sequencing to confim mutation. Results There were none cartier of 3243 A→G mutation in both groups, only 1 of 3256 C→T, 3290 T→C mutaion （respectively） in diabetic group.There was no significant difference between two groups for tRNA^leu（UUR） mutant frequencies（P = 0.228）.Conclusion Mitoehondrial tRNAleu（UUR）3243（A→G）,3256（C→T）,3290 （T→C） mutations might not be the heated variations in T2DM in Wuhan.