亚甲基四氢叶酸还原酶基因多态性与甘肃汉族2型糖尿病肾病的关系

目的 研究亚甲基四氢叶酸还原酶(MTHFR)基因多态性与汉族2型糖尿病肾病的关系。方法 应用聚合酶链反应—限制性片段长度多态性的方法，检测甘肃汉族人2型糖尿病患者91例，其中单纯糖尿病组50例，糖尿病肾病组41例，正常对照组35例，比较各组间MTHFR等位基因和基因型频率。结果 纯合基因型TT和杂合基因型CT在糖尿病肾病组的频率为34．1％和51．2％，高于糖尿病组(16％和48％)和正常对照组(14.3％和25．7％)，糖尿病肾病组的等位基因T频率(59．8％)也高于糖尿病组(40％)和正常对照组(27．1％)，差异均有统计学意义，糖尿病组和正常对照组之间的分布无统计学差异。结论 MTHFR基因C677T变异与甘肃汉族2型糖尿病患者糖尿病肾病的发病有关，等位基因T可能是糖尿病肾病的易感基因。

Study on the Relationship between Gene Polymorphisms of N5,10-methylenetetrahydrofolate Reductase and Nephropathy in type 2 Diabetes Mellitus in Gansu Han Chinese of China

Objective To study the relationship between gene polymorphisms of N5,10-methylenetetrahydrofolate reductase (MTHFR) and Gansu Han Chinese patients with type 2 diabetes mellitus and diabetic nephropathy (DN). Methods With PCR-RFLP method, MTHFR C677T mutation was detected in 91 cases of type 2 diabetic patients, including 50 without diabetic complications (DM group), 41 with diabetic nephropathy (DN group) and 35 healthy persons as control (C group). Results The frequency of MTHFR homogenetic type TT and heterogenetic type CT and allele T in DN (34.1%, 51.2%, 59.8%, respectively) was significantly higher than that in DM (16%, 48%, 40%) and C (14.3%, 25.7%, 27.1%), but DM and C group showed similar frequency of genotype TT and allele T. Conclusion In type 2 DM of Han nationality in Gansu China, MTHFR gene C667T mutation was associated with diabetic nephropathy, and the allele T might be a susceptible gene of diabetic nephropathy.