早发冠心病患者甲烯四氢叶酸还原酶基因的C677T多态性研究  

C677T Genetic Polymorphism of Methylenetetrahydrofolate Reductase in Premature Coronary Heart Disease

作　　者：许海燕[1,2] 陈在嘉[1,2] 汤健[1,2] 朱大明[1,2] 张晨晖[1,2] 杨跃进 陈纪林 

机构地区：[1]中国医学科学院中国协和医科大学阜外心血管病医院冠心病研究室 [2]北京医科大学心血管基础研究所

出　　处：《中国医学科学院学报》1999年第2期118-121,共4页Acta Academiae Medicinae Sinicae

摘　　要：目的探讨同型半胱氨酸代谢过程的关键酶之一——甲烯四氢叶酸还原酶（ＭＴＨＦＲ）基因Ｃ６７７Ｔ多态性与早发冠心病发病的关系。方法采用限制性内切酶片段长度多态性方法检测患者的ＭＴＨＦＲ基因Ｃ６７７Ｔ位碱基突变。结果６７例患者中Ｔ纯合基因型占３４．３％（２３／６７）、杂合基因型占４３．３％（２９／６７），Ｃ纯合基因型占２２．４％（１５／６７）；Ｔ等位基因频率为５５．９％（７５／１３４），Ｃ等位基因频率为４４．１％（５９／１３４）；与正常对照组比较，差异均有显著性意义（Ｐ＜０．０５）。结论ＭＴＨＦＲ基因Ｃ６７７Ｔ点突变可能是中国人早发冠心病发病的危险因素之一。Objective Methylenetetrahydrofolate reductase (MTHFR) is an important factor responsible for hyperhomocysteinemia. The relation of MTHFR gene C677T polymorphism and premature coronary heart disease was studied. Methods MTHFR C677T genetic polymorphisms in 67 patients with premature coronary heart disease were detected by PCR RFLP technique.Results In case group, the frequency of T homogenic type was 34.3% (23/67), heterogenic type 43.3% (29/67) and C homogenic type 22. 4% (15/67). T allele frequency was 55.9% (75/134) while C allele frequency 44.1% (59/134) in case group. There were significant differences in MTHFR genotype and allele frequencies between cases and controls (χ 2=6.82 and 5.41 respectively, P<0.05).Conclusions It was suggested that MTHFR gene C677T mutation was a possible risk factor of Chinese premature coronary heart disease.

关 键 词：冠心病 甲烯四氢叶酸 还原酶 

分 类 号：R541.4[医药卫生—心血管疾病]