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目的 探讨甲基四氢叶酸还原酶 (methylenetetrahydrofolate reductase,MTHFR)基因多态性与糖尿病肾病 (diabetic nephropathy,DN)发生的关系。方法 利用聚合酶链反应 -限制性片段长度多态性分析法 (PCR- RFL P)检测了 85名健康人和经尿微量白蛋白检测确诊的 82例合并 DN和 79例无 DN的2型糖尿病患者 MTHFR基因第 6 77位碱基多态性。结果 DN患者 MTHFR基因变异型纯合子和等位基因频率均明显高于无肾病患者及健康者 ,P<0 .0 1。结论 MTHFR基因第 6 77位碱基变异可能是中国汉族人 DN发生的一个遗传危险因子
Objective To investigate the relationship between the gene polymorphism of methylenetetrahydrofolate reductase (MTHFR) and the occurrence of diabetic nephropathy (DN). Methods Eighty-five healthy individuals and 82 DN patients diagnosed with urinary microalbuminuria and 79 non-DN type 2 diabetes mellitus patients were detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) MTHFR gene polymorphism at position 677 in patients. Results The frequencies of MTHFR variant homozygote and allele in patients with DN were significantly higher than those without nephropathy and healthy subjects (P <0.01). Conclusion Base mutation at position 677 of MTHFR gene may be a genetic risk factor for DN in Han Chinese