老年糖尿病视网膜病与同型半胱氨酸及其相关酶研究  

Study on the Relationship between Homocysteine & N^(5,10)-methylenetetrahydrofolate Reductase and Diabetic Retinopathy

作　　者：刘德敏[1] 范新萍[1] 孙颖[1] 于德民[1] 张捷[1] 

机构地区：[1]天津医科大学代谢病医院,300070

出　　处：《天津医药》2006年第1期4-6,共3页Tianjin Medical Journal

基　　金：天津市高等学校科技发展基金项目(项目编号:991017)

摘　　要：目的:探讨同型半胱氨酸(HCY)及其代谢相关酶亚甲基四氢叶酸还原酶(MTHFR)基因多态性、血叶酸水平与视网膜病变(DR)的关系。方法:用反相高效液相色谱-荧光(rHPLC)法测定DR患者的血浆总HCY(tHcy),放射免疫法测定血浆维生素B12和叶酸水平,以多聚酶链反应-限制性内切酶片段长度多态性法(PCR-RFLP)分析MTHFR677CT和1298AC基因型分布,并与健康查体者(对照组)比较。结果:DR组MTHFRC677T基因型频率分布及等位基因频率与对照组差异有统计学意义(P<0.001)。DR组tHcy水平高于对照组,叶酸浓度低于对照组。DR组677C→T突变者,tHcy浓度高于C组相同基因型者(P<0.05),MTHFR1298AC基因型分布及等位基因频率、突变型与野生型间tHcy及叶酸水平差异均无统计学意义(P>0.05)。结论:高同型半胱氨酸血症(HHcy)是DR的危险因素。血浆HCY水平的升高与叶酸的降低有关。MTHFR基因677C→T突变是高同型半胱氨酸血症的原因,但MTHFR1298AC基因多态性与DR的发生无关。Objective： To study the relationship between plasma total homocysteine （tHey）, its metabolic correlating enzyme methylenetetrahydrofolate reductase （MTHFR） gene polymorphism, folate, and diabetic retinopathy. Methods： The plasma they was measured by rHPLC in DR patients, folate level, plasma VitB12 were detected by radioimmunity. Genotype distribution of MTHFR 677CT and MTHFR 1298AC genotype distribution was analyzed by PCR-RFLP and then compared with the healthy group （control）. Results： MTHFR C677T genotype frequency distribution and allele frequency in DR patients were statistically significant compared with the control group （P〈 0.01）. Patients with diabetic retinopathy had higher they level than control subjects, and had lower folate level. DR patients who had MTHFR677CT mutation were associated with higher plasma they level than those of the same genotype in the group （P〈 0.05）. There were no significant differences in MTHFR1298AC genotype distribution and allele frequency, neither were they and folate level between mutant and wide types （P 〉 0.05）. Conclusion： HHcy is a dangerous factor to DR. Plasma HCY level increase is ralated to the decrease of folate, MTHFR gene 677CT mutation is a main reason for HCY but MTHFR1298AC gene polymorphism is not related to DR.

关 键 词：高同种半胱氨酸血症 亚甲基四氢叶酸还原酶 糖尿病视网膜病变 多态性现象(遗传学) 

分 类 号：R589.3[医药卫生—内分泌] R587.2[医药卫生—内科学]