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目的 了解线粒体DNA16 189T→C变异在 2型糖尿病 (DM)人群中的发生率和该基因变异与胰岛素抵抗的关系以及对糖尿病遗传易感性的影响。方法 利用聚合酶链反应结合限制性内切酶酶切分析 ,对 383例随机抽取的无亲缘关系的 2型DM患者及 15 1例无糖尿病的正常对照者进行筛查。结果 (1) 2型DM患者中mtDNA 16 189T→C变异的发生率显著高于正常对照组 (2 0 % ,P <0 0 0 0 1) ;(2 )母亲有糖尿病的 2型DM患者中mtDNA 16 189T→C变异的发生率高于无母系糖尿病家族史的患者 (2 7% ,P =0 0 12 ) ;(3)在 2型DM患者中 ,与mtDNA 16 189T→C变异阴性组相比 ,mtDNA16 189T→C变异阳性组的空腹胰岛素水平升高 (1 5 μU/L±2 5 μU/Lvs 1 2 μU/L± 1 2 μU/L ,经对数转化后为 0 2 4μU/L± 0 0 7μU/Lvs 0 2 μU/L± 0 0 7μU/L ,P =0 0 31) ,胰岛素敏感指数降低(- 4 5 8± 0 76vs - 4 42± 0 75 ,P =0 0 3)Homa胰岛素抵抗指数升高 (6 5 2± 10 6 9vs 5 0 3± 6 35 ,经对数转化后 :1 47± 0 76vs 1 30± 0 75 ,P =0 0 4)。 (4 )在正常对照组中 ,mtDNA 16 189T→C变异阳性组与阴性组的年龄、性别、体重指数、腰臀围比、血脂、空腹血糖、空腹胰岛素、胰岛素敏感指数 (ISI)以及Homa胰岛素抵抗指数间的差
Objective To investigate the incidence of mitochondrial DNA 189C → C mutation in type 2 diabetes mellitus (DM) and its relationship with insulin resistance and the genetic predisposition to diabetes mellitus. Methods 383 unrelated patients with type 2 DM and 15 1 normal controls without diabetes were screened by polymerase chain reaction and restriction endonuclease digestion. Results (1) The incidence of mtDNA 16 189T → C mutation in type 2 DM patients was significantly higher than that in the normal controls (20%, P 0 01 0). (2) In type 2 diabetic patients with DM The incidence of mtDNA 16 189T → C mutation was higher than that of patients without matriarchal family history of diabetes (27%, P = 0 0 12). (3) In type 2 DM patients, , The fasting insulin level was higher in mtDNA16 189T → C mutation positive group (15μU / L ± 25μU / L vs 12μU / L ± 12μU / L, after logarithmic transformation it was 0 2 4μU / L The insulin sensitivity index decreased (-458 ± 0 76 vs -4 42 ± 0 75, P = 0 0 3) and the insulin sensitivity index decreased (± 0 0 7 μU / Lvs 0 2 μU / L ± 0 0 7 μU / L, P = Homa insulin resistance index increased (6 5 2 ± 10 6 9 vs 5 0 3 ± 6 35, after logarithmic transformation: 1 47 ± 0 76 vs 1 30 ± 0 75, P = 0 0 4). (4) In the normal control group, age, sex, body mass index, waist-to-hip ratio, blood lipid, fasting blood glucose, fasting insulin, insulin sensitivity index (ISI) and Homa insulin Resistance index difference between