关键词: 线粒体, 点突变, 糖尿病, 多态现象（遗传学）

Abstract: Objective To study the characteristics of diabetes with mitochondrial DNA 16189 (T/C transition) mutation of population in North China. Methods PCR and RELP techniques were used to examine 155 patients with type 2 diabetes (diabetic group) and 164 heathy people (control group) to analyse the mitochondrial gene. Results ①The prevalence of mitochondrial DNA (mtNDA) 16189 T/C mutation in diabetic group ［32.26%(50/155)］ was significantly higher than that in the control group ［15.24%(25/164)］; ②No significant difference in fasting plasma glucose level, fasting C-peptide, postprandial C-peptide, GHbA₁c between those with mutation and those without mutation in diabetic group; ③ Clinical characteristics of diabetes with mitochondrial DNA 16189 T/C mutation: there was a late onset at diabetes (about 50 years old),there was no significant difference in sexuality(1.3:1); 74% diabetics with mutation had higher BMI; Blood lipid was found abnormal in 65% diabetics with mutation ; the prevalence of the mutation was high in diabetics with maternal family history. Conclusion The mitochondrial DNA 16189(T/C transition) mutation may be only a polymorphism in population.

Key words: mitochondrial, point mutation, diabetes mellitus, polymorphism (genetics)