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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。
Objective To investigate the relationship between the gene polymorphism of methylenetetrahydrofolate reductase (MTHFR) and the occurrence and development of diabetic retinopathy (DR) in Han Chinese. Methods Eighty-five healthy Han Chinese were detected by polymerase chain reaction and restriction fragment length polymor-phism (PCR-RFLP). Sixty-two cases diagnosed by ophthalmoscopy MTHFR gene polymorphism (C677T) of MTHFR gene in DR and 117 DR Chinese Han patients with type 2 diabetes mellitus. Results The frequencies of MTHFR variant homozygote and allele in DR patients were significantly higher than those in non-DR diabetic patients and healthy subjects (P <0.01). Conclusion Base mutation at position 677 of MTHFR gene may be a genetic risk factor for DR in Chinese Han population.