甲基四氢叶酸还原酶基因多态性与糖尿病视网膜病变的关系

Relationship between methylenetetrahydrofolate reductase gene polymorphism and diabetic retinopathy

目的 探讨中国汉族人甲基四氢叶酸还原酶 (methylenetetrahydrofolate reductase,MTHFR)基因多态性与糖尿病视网膜病变 (diabetic retinopathy,DR)发生和发展的关系。 方法 利用聚合酶链反应 -限制性片段长度多态性分析法 (polymerase chain reaction and restriction fragment length polymor-phism ,PCR- RFL P)检测 85名中国汉族健康人、经检眼镜检查确诊的 6 2例合并 DR和 117例无 DR的中国汉族人 2型糖尿病患者 MTHFR基因第 6 77位碱基多态性 (C6 77T)。 结果 DR患者 MTHFR基因变异型纯合子和等位基因频率均明显高于无 DR的糖尿病患者及健康人 (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 DR发生的一个遗传危险因子。

Objectives To study the relationships between methylenetetrahydrofolate reductase(MTHFR) gene polymorphism and diabetic retinopathy (DR) in Chinese Han race. Methods With polymerase chain reaction and restriction fragment length polymorphism (PCR RFLP), MTHFR gene 677 T mutation (cytosine is replced by thymine in No.677 site) was detected in 85 health controls, 62 with DR and 117 without DR of type 2 diabetics comfrimed by ophthalmoscope. Results The frequency of MTHFR variant genotypes and alleles of DR in Chinese Han race.patients were signigicantly higher than those without retinopathy and healthy controls (P<0.01). Conclusions The results suggested that MTHFR gene C677T mutation was probably one of the genetic risk factors of diabetic retinopathy in Chinese Han rase.