摘要
目的 :研究线粒体基因 1 6 1 89T/ C突变性糖尿病在中国北方人群中的特点。方法 :采用聚合酶链反应(PCR)和限制性片段长度多态性 (REL P)分析方法对中国北方 1 5 5例 2型糖尿病患者 (糖尿病组 )和 1 6 4例正常中国北方人 (对照组 )进行核心家系线粒体基因筛检和分析。结果 :1线粒体基因 1 6 1 89T/ C突变在糖尿病组占 32 .2 6 % (5 0 / 1 5 5 ) ,在对照组占 1 5 .2 4 % (2 5 / 1 6 4 ) ,二者比较差异有显著性 (P<0 .0 5 )。 2在糖尿病患者中线粒体基因 1 6 1 89T/ C突变组 (n=5 0 )与非突变组 (n=1 0 5 )比较 ,空腹血糖 (FPG)、糖化血红蛋白 (GHb A1 c)、空腹 C-肽及餐后 2 h C-肽 ,差异均无显著性。 3线粒体基因 1 6 1 89T/ C突变的糖尿病患者临床特点多为 5 0岁左右发病 ,男女发病率无明显差异 (1 .3∶ 1 ) ;发病时体重指数常较高 (74 %的患者 BMI超过标准值 ) ;6 5 %患者伴血脂代谢异常 ;具有明显的母系遗传倾向。结论 :线粒体基因 1 6 1 89T/ C点突变可能仅为人群中的基因多态现象 。
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, GHbA 1c 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.
出处
《吉林大学学报（医学版）》
CAS
CSCD
北大核心
2004年第3期468-471,共4页
Journal of Jilin University：Medicine Edition
