【摘要】 目的探讨N5,N10-亚甲基四氢叶酸还原酶(MTHFR)基因C677T多态性与冠心病(CHD)的相关性。方法应用PCR-限制性片断长度多态性(RFLP)技术,检测208例CHD患者和500名健康人(正常组)MTHFRC677T基因多态。结果MTHFR基因第677位存在2种等位基因(C和T)、3种基因型(C/C、C/T、T/T)。CHD组C/C、C/T、T/T3种基因型频率分别为15.4%、45.7%、38.9%,T等位基因频率为61.8%,C等位基因频率为38.2%;正常组C/C、C/T、T/T型频率分别为35.6%、44.0%、20.4%,T等位基因频率为42.4%,C等位基因频率为57.6%。CHD组T/T型及T等位基因频率均高于对照组(P<0.05)。结论MTHFR基因C677T多态性可能与河南汉族人群CHD的发生有关。更多还原

【Abstract】 Aim: To explore the relationship between methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and coronary heart disease (CHD). Methods: A total of 208 patients with CHD and 500 normal controls were subjected to detect MTHFR C677T gene polymorphism using PCR-RFLP. Results: There were three kinds of genotype: C/C, C/T and T/T. In CHD group, the frequencies of C/C, C/T and T/T genotype were 15.4%, 45.7% and 38.9%, respectively. T and C allele frequencies were 61.8% and 38.2%, respectively. In the control group, the frequencies of C/C, C/T and T/T genotype were 35.6%, 44.0%, and 20.4%, respectively. T and C alleles frequencies were 42.4% and 57.6%. The frequencies of T/T genotype and T allele in CHD group were significantly higher than those in the control group (P<0.05). Conclusion: There may be an association between MTHFR C677T polymorphism and CHD in Henan Han population.更多还原