线粒体转运核糖核酸亮氨酸基因异常与糖尿病

Point mutation of mitochondrial tRNA Leu(UUR) gene in Chinese diabetics

线粒体ｔＲＮＡＬｅｕ（ＵＵＲ）基因异常是ＮＩＤＤＭ及ＩＤＤＭ的致病基因之一。在２９０例ＮＩＤＤＭ及９０例ＩＤＤＭ中，各检出该基因异常１例，检出率分别为０．３４％及１．１％。在一级亲属或母亲同患糖尿病的ＮＩＤＤＭ和ＩＤＤＭ人群中，检出率分别为２．５％、４％及１０％和２０％。而在无家族史人群中，检出率为０。提示该基因的检测着重于在有家族史甚至是母亲有糖尿病病史的人群是合适的。

The point mutation in mitochondrial DNA tRNA Leu(UUR) gene is one of diabetic genes in NIDDM and IDDM. The mutation was found in one of 290 cases of NIDDM and one of 90 cases of IDDM subjects(0.34% and 1.1%). The prevalences were 4.0%(1/25) and 20%(1/5) among the patients characterized with diabetic maternal parents. It suggests that it is reasonable that the screening of the mutation concentrates on patients with diabetic mothers.