论文部分内容阅读
线粒体 tRNA~(Leu(uuR))基因核苷酸(nt)3243A→G点突变在临床上可致呈母系遗传方式传递的非胰岛素依赖型糖尿病(NIDDM)。用线粒体 rRNA~(Leu(uuR))基因突变诊断方法,在56例无亲缘关系,又小于45岁,各自均有 NIDDM 家族史的 NIDDM 病人中,筛查线粒体基因突变糖尿病,有2例基因诊断阳性,本病在不具备常见临床表现的 NIDDM 亚群中占3.6%～9.5%。此结果进一步证实了线粒体基因突变对 NIDDM 的发病起重要作用,亦证实了线粒体 tRNA~(Leu(uuR))基因核苷酸(nt)3243A→G点突变在临床上可致呈母系遗传方式传递的非胰岛素依赖型糖尿病。
Nucleotide (nt) 3243A → G point mutations in the mitochondrial tRNA ~ (Leu (uuR)) gene are clinically non-insulin dependent diabetes mellitus (NIDDM) that can be transmitted in a maternally inherited manner. Using mitochondrial rRNA ~ (Leu (uuR)) gene mutation diagnostic method, screening of mitochondrial DNA mutations in 56 unrelated and less than 45-year-old NIDDM patients with family history of NIDDM, 2 cases of genetic diagnosis Positive, the disease does not have a common clinical manifestations of NIDDM subgroup 3.6% ~ 9.5%. This result further confirmed that mitochondrial gene mutation plays an important role in the pathogenesis of NIDDM and confirmed that the 3243A → G point mutation of mitochondrial tRNA (Leu (uuR)) gene can be clinically maternally inherited Of non-insulin-dependent diabetes mellitus.