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目的 探讨亚甲基四氢叶酸还原酶 (methylenetetrahydrofolatereductase,MTHFR)基因多态性与中国北方汉族 2型糖尿病患者微血管并发症 (DMAP)易感性的关系。方法 应用聚合酶链反应 -限制性片段长度多态性 (PCR RFLP)的方法检测 2 91名中国北方汉族人〔2型糖尿病患者 2 2 9例 ,其中无微血管并发症 (NCD)组 10 2例 ,糖尿病视网膜病变 (DR)组 6 0例 ,糖尿病肾病 (DN)组 6 7例 ;健康人对照 (CON)组 6 2例〕MTHFR基因的多态性 ,比较各组间MTHFR等位基因和基因型的频率。结果 基因型BB在DN及DR组 (34.3 %和 31.7% )高于NCD组和CON组 (13.7%和 12 .9% ) ;DN及DR组的等位基因B频率 (5 4.4%和 5 9.9% )也高于NCD组和CON组 (41.2 %和 35 .5 % ) ,差异均有显著统计学意义。基因型BB和等位基因B在NCD和CON组之间的分布无统计学差异。结论 MTHFR基因C6 77T变异与中国北方汉族 2型DM患者DMAP的发生有关。等位基因B可能是DMAP的易感基因
Objective To investigate the relationship between methylenetetrahydrofolate reductase (MTHFR) gene polymorphism and susceptibility to microvascular complications (DMAP) in type 2 diabetic patients in northern China. Methods Two hundred and ninety-one Northern Han Chinese patients (2 29 cases with type 2 diabetes mellitus, 102 cases without microvascular complications (NCD) group) were detected by polymerase chain reaction-restriction fragment length polymorphism (PCR RFLP) , 60 cases of diabetic retinopathy (DR) group, 67 cases of diabetic nephropathy (DN) group and 62 cases of healthy control group (CON)). The MTHFR allele and gene Type of frequency. Results Genotype BB was significantly higher in DN group and DR group (34.3% vs 31.7%) than in NCD group and CON group (13.7% vs 12.9%). The frequencies of allele B in DN group and DR group (5.4% vs 5.99% %) Were also higher than those in NCD group and CON group (41.2% vs 35.5%), the differences were statistically significant. There was no significant difference in the distribution of genotype BB and allele B between NCD and CON groups. Conclusion The C677T mutation of MTHFR gene is associated with the occurrence of DMAP in type 2 DM patients in northern China. Allele B may be a susceptible gene to DMAP