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河南汉族冠心病患者N5,N10-亚甲基四氢叶酸还原酶基因C677T多态性检测
引用本文:焦昆立,赵洛沙,于海东,于辉,刘传红,郑红.河南汉族冠心病患者N5,N10-亚甲基四氢叶酸还原酶基因C677T多态性检测[J].郑州大学学报(医学版),2007,42(3):426-428.
作者姓名:焦昆立  赵洛沙  于海东  于辉  刘传红  郑红
作者单位:郑州大学第一附属医院心内科,郑州,450052;郑州大学基础医学院细胞生物学与医学遗传学教研室,郑州,450001
基金项目:河南省高等学校杰出人才创新工程项目 , 河南省杰出青年科学基金
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)MTHFR C677T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/T 3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.

关 键 词:亚甲基四氢叶酸还原酶  基因多态性  同型半胱氨酸  冠心病  河南  汉族
收稿时间:2006-11-18
修稿时间:2006-11-18

Detection of polymorphisms of methylenetetrahydrofolate reductase C677T in patients with coronary heart disease in Henan Han population
JIAO Kunli,ZHAO Luosha,YU Haidong,YU Hui,LIU Chuanhong,ZHENG Hong.Detection of polymorphisms of methylenetetrahydrofolate reductase C677T in patients with coronary heart disease in Henan Han population[J].Journal of Zhengzhou University: Med Sci,2007,42(3):426-428.
Authors:JIAO Kunli  ZHAO Luosha  YU Haidong  YU Hui  LIU Chuanhong  ZHENG Hong
Institution:1 Department of Cardiology, the First Affiliated Hospital, Zhengzhou University, Zhengzhou 450052 ;2 Department of Cell Biology and Medical Genetics, College of Basic Medical Sciences, Zhengzhou University ,Zhengzhou 450001
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.
Keywords:methylenetetrahydrofolate reductase  polymorphism  homocysteinc acid  coronary heart disease  Henan province  Han population
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