摘要
目的 探讨中国 40岁以下发病的糖尿病患者线粒体基因tRNALeu(UUR) 32 43A→G突变的发生率。方法 117例 40岁以下发病且有糖尿病家族史的糖尿病以及 90例 40岁以下发病无糖尿病家族史的糖尿病患者和 5 0例正常人分别测定体重指数 (BMI)、臀腰比 (WHR)、了解代谢控制、胰腺分泌和胰岛素抵抗等情况并用PCR RFLP检测线粒体基因tRNALeu(UUR) 32 43A→G突变。结果 糖尿病 2亚组BMI分别为 (2 5 .1± 3.1)和 (2 4.1± 3.4)kg/m2 ,差异无显著性 ;FBG、HbA1c均较高 ,且存在明显胰岛素抵抗 (HOMA IR 3.41～ 9.2 9)。在 2 0 7例患者中发现 1例线粒体基因tRNALeu(UUR) 32 43A→G突变患者。在该患者家系中又发现 5例存在线粒体基因突变 ,其中 2例为非糖尿病患者。这些患者的共同特点是耳聋伴或不伴糖尿病 ,糖尿病患者消瘦较早使用胰岛素。结论 中国 40岁以下发病的糖尿病患者线粒体基因突变发生率约为 0 .48%,有家族史者约为 0 .85 %。
Objective To investigate the clinical characteristics and the prevalence of mitochondrial gene A3243G mutation in patients with below-40-year-old-onset type 2 diabetes mellitus in China. Methods Body mass index (BMI), waist hip ratio (WHR), metabolism control, insulin secretion and HOMA-IR were determined in 207 patients with below-40-year-old-onset diabetes mellitus and 50 subjects with normal OGTT as control. There were 117 cases with diabetic family history. The mitochondrial gene A3243G mutation was assayed by PCR-RFLP. Results TherewasnosignificantdifferenceofBMI〔(25.1±3.1) vs (24.1±3.4)kg/m 2〕 between two diabetic subgroups. The fasting blood glucose (FBG) and HbA 1c were both higher in two diabetic subgroups. Inthosepatientstheinsulin resistance was obviously (HOMA-IR 3.41～9.29). The mitochondrial gene A3243G mutation was found in one case and 5 members of her family (three cases had diabetes mellitus and two cases had normal glucose tolerance). Conclusion The prevalence of the mitochondrial gene A3243G mutatuion is 0.48% in early onset diabetic patients in China and 0.85% in positive diabetic family history patients.
出处
《中华内分泌代谢杂志》
CAS
CSCD
北大核心
2002年第1期29-32,共4页
Chinese Journal of Endocrinology and Metabolism
关键词
非胰岛素依赖型糖尿病
DNA
线粒体
突变
Diabetes mellitus, non-insulin-dependent
DNA, mitochondrial
Mutation
