摘要
目的 :探讨同型半胱氨酸(HCY)代谢相关酶甲基四氢叶酸还原酶 (MTHFR)基因多态性、血浆HCY、叶酸、维生素B12 水平与冠心病的关系。方法:用酶联免疫试剂盒测定血浆HCY ,放射免疫法测定维生素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 (PCR -RFLP)分析MTHFRC677T基因型。结果:冠心病组MTHRR基因TT型、TC型及CC型频率分布及T、C等位基因频率与对照组无显著差异 (χ2=1.427,P>0.05;χ2=1.257,P>0.05)。冠心病组HCY水平为 (21.58±12.69)umol/L显著高于对照组(P<0.01)。叶酸浓度平均(2.78±1.66)ng/ml,维生素B 12 浓度平均 (231.76±143.78) pg/ml,明显低于对照组 (P<0.01)。冠心病组中3种基因型的HCY水平有显著差异 ,TT型HCY明显高于CC型 (P<0.05)。结论:高HCY血症是冠心病发病的危险因素 ,血浆HCY水平的升高与叶酸、维生素B12 的降低有关。MTHFR基因C677T的TT突变是高同型半胱氨酸血症的原因 。
Objective:To study the relationship among plasma homocystein(HCY), folate, vitamine B12, C677T mutation of the methylenetetrahydrofolate reductase(MTHFR) gene and coronary heart disease.Methods: Plasma homocystein(HCY) were determined by enzyme linked immunosorbent assay(ELISA),plasma folate and vitamine B12 as cofactors of MTHFR were determined by radioimmunologic assay.The mutation of the 677C→T transition of MTHFR was investigated by using polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP).Results:There was no significant difference in the frequencies of genotype and alleles between two groups(χ2=1.427, P>0.05;χ2=1.257,P>0.05).The plasma HCY mean levels in CHD group are(21.58±12.69)umol/L.They are higher in CHD group than that in control group(P<0.01).The mean level of folate and vitamineB12 are lower in CHD group(2.78±1.66)ng/ml,(231.76±143.78)pg/ml than that in control group(P<0.01).The plasma HCY levels in TT genotype of MTHFR gene was much higher than those in CC.Conclusion:Hyperhomocysteinemia is an independent risk factor of CHD. Hyperhomocysteinemia is related with folate and vitamineB12 decreasing.MTHFR is the main enzyme related to homocysteine metabolism. Its genetic mutations are possibly important mechanism of hyperhomocysteinemia, but MTHFR mutation is not related with CHD.
出处
《天津医科大学学报》
2002年第4期511-513,共3页
Journal of Tianjin Medical University
