【摘要】 目的研究亚甲基四氢叶酸还原酶(m ethylenetetrahydrofolate reductase,MTHFR)基因677位单核苷酸多态性(C-T)与血浆同型半胱氨酸(homocyste ine,Hcy)水平及冠心病之间的关系。方法用多聚酶链式反应-限制性片段多态性(RFLP)方法检测122例冠心病患者(冠脉造影显示至少有1支血管狭窄≥50%)与56例对照组(冠脉造影未发现任何可辨认斑块或狭窄)的MTHFR 677位单核苷酸多态性(C-T);用荧光衍生化后高效液相色谱法(h igh?perform ance liqu id chrom atography,HLPC)检测血浆总Hcy水平。结果①冠心病组Hcy浓度高于对照组(P<0.05)。②冠心病组中TT、TC、CC的基因型频率分别为30%、45%、25%;T等位基因频率为53%,C等位基因频率为47%。在对照组中TT、TC、CC的基因型频率分别为25%、32%、43%;T等位基因频率为41%,C等位基因频率为59%。两组基因型分布和等位基因频率分布差异有显著性(均P<0.05)。③两组的TT基因型者血浆Hcy浓度均显著高于CC和TC基因型者(P<0.05),而后两者间无显著性差异。结论MTHFR基因C677T点突变对冠心病发病有一定的关系。MTHFR基因纯合突变是引起高Hcy血症的一个重要的遗传因素。更多还原

【Abstract】 AIM To investigate the relationship between methylenetetrahydrofolate reduetase(MTHFR) gene polymorphisms,plasma homocystein(HCY) and coronary heart disease(CHD).METHODS One hundred and seventy-eight subjects who had undergone coronary angiography in our hospital were included in this study.Cases(n=122) with ≥50% stenosis in at least one of the three coronary vessels were angiographically defined as having coronary heart disease(CHD),while subjects(n=56) without stenosis in all the three coronary vessels were included as controls.MTHFR gene C677T polymorphisms was determined with polymerase chain reaction(PCR) and restriction fragment length polymorphisms(RFLP).Plasma HCY levels were measured using high-performance liquid chromatography with fluorescence detection.RESULTS The mean plasma HCY was significantly higher in CHD patients than that in in controls(P<0.05).The frequencies of MTHFR C677T homogenetic type and heterogenetic type in patients with CHD were 30% and 45% respectively,higher than those in control group(25% and 32%, respectively).The frequency of 677T allele was much higher than that in control group(P<0.05) and plasma HCY levels were markedly higher in patients with TT genotype than those in patients with TC and CC genotype(P<0.05).CONCLUSION MTHFR C677T gene polymrophism is closely associated with CHD.更多还原