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

目的探讨中国汉族人甲基四氢叶酸还原酶(ethylenetetrahydrofolate reductase,MTHFR)因多态性与糖尿病视网膜病变(iabetic retinopathy, DR)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(olymerase chain reaction and restriction fragme nt length polymorphism, PCR-LP)测85名中国汉族健康人、经检眼镜检查确诊的62 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677位碱基多态性(C677T)。 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无DR的糖尿病患者及健康人(P<0．01)。结论MTHFR基因第677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。(中华眼底病杂志,2001,17:198-200)

Relationship between methylenetetrahydrofolate reductase gene polymorphism and diabetic retinopaty

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.