【摘要】 目的　探讨亚甲基四氢叶酸还原酶 (MTHFR)基因多态性与 2型糖尿病肾病 (DN)易感性的关系。方法　利用聚合酶链反应限制性片段长度多态性分析法 (PCR RFLP)检测 175例河北地区汉族人 [12 3例为 2型糖尿病患者 (T2DM ) ,其中 6 9例合并糖尿病肾病 (DN +) ,5 4例不伴肾病 (DN - ) ,5 2例为健康对照者 (HC) ]MTHFR基因第6 77位碱基多态性。分别测定各组MTHFR等位基因和基因型的频率 ,比较各组间频率分布差异是否具有统计学意义。结果　糖尿病肾病 (DN +)患者MTHFR基因纯合突变型 (TT)和等位基因 (T)频率均明显高于糖尿病无肾病(DN - )患者及健康者 (HC) ,分别为 30 .4 3%vs 16 .6 7%、13.4 6 % ,Ρ <0 .0 5 ,和 5 4 .35 %vs 36 .11%、37.5 0 % ,Ρ <0 .0 1。结论　MTHFR基因 6 77C→T突变为河北地区汉族人T2DM患者发生DN的一个遗传易感因素更多还原

【Abstract】 Objective To investigate the relationship between methylenemtetrahydrofolate reductase (MTHFR) gene polymorphism and the susceptibility to diabetic nephropathy (DN) in type 2 diabetes mellitus (T2DM).Methods Polymerase chain reaction restriction fragment length polymorphism (PCR RFLP) was used to detect MTHFR gene C677T mutation in 123 type 2 diabetic patients,including 69 diabetic nephropathy(DN+ group),54 non diabetic nephropathy(DN- group),and 52 healthy controls(HC group),and then the frequency of mutation was statistically computed.Results The frequencies of MTHFR TT homogenetic type and allele T in DN+ group were significantly higher than those in DN- and HC groups ( 30.43% vs 16.67% , 13.46% ,Ρ< 0.05 ;and 54.35% vs 36.11% , 37.50% ,Ρ< 0.01 ).Conclusion MTHFR gene C677T mutation is one of the genetic susceptible factors for diabetic nephropathy in type 2 diabetes mellitus in the Hans of Hebei Province.更多还原