MTHFR基因多态性与老年冠心病及同型半胱氨酸的相关性研究  

Research on relation between methylene tetrahydrofolate reductase(MTHFR) genepolymorphisms,levers of plasma homocysteine(Hcy) and coronary heart disease in the elderly

作　　者：杨春[1] 茅松[2] 余元勋[3] 徐军[1] 缪东培[1] 

机构地区：[1]南京军区南京总医院干部心内科,南京210002 [2]南京军区南京总医院儿科,南京210002 [3]安徽省优生优育遗传医学中心,合肥230061

出　　处：《中国优生与遗传杂志》2011年第12期15-16,共2页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨N5,N10亚甲基四氢叶酸还原酶(MTHFR)基因多态性及血浆同型半胱氨酸(Hcy)与老年冠心病的相关性。方法应用高效液相色谱法和多聚酶链反应限制性内切酶片段长度多态性技术检测并比较了120例老年冠心病患者(CHD组)和58例健康老年人(对照组)的血浆Hcy浓度及MTHFR基因型。结果两组MTHFR 677位点基因型分布和各等位基因频率比较均有统计学差异(P均<0.05);CHD组T等位基因频率及血浆Hcy浓度高于对照组(P均<0.05)。结论 MTHFR基因突变可导致血浆Hcy浓度升高,高Hcy浓度及MTHFR基因T型均为老年CHD的高危因素。Objective： To observe the association of plasma （Hcy） and polymorphism in 5, 10 MTHFR genes coronary heart disease in the elderly. Methods： 120 elderly patients with coronary heart disease and 58 controls were studied. The Hcy levels were measured by high performance liquid chromatography fluorescence detection. The polymorphism in MTHFR was determined by a polymerase chain reaction （PCR） assay and subsequent restriction enzyme digestion. Results： The genotype distribution of MTHFR R677 site and the frequency of alleles were significant difference in cerebral infarction group and control group （ P all 〈 0. 05 ）. The frequency of T alleles and the fast Hcy levels were higher in the cerebral infarction group compared with those in the control group （P all 〈 0. 05）. Conclusions： The MTHFR gene mutations can lead to hyperhomocysteinemia increase in the elderly patients with coronary heart disease. The mutations in MTHFR and hyperhomocysteinemia are risk factors for coronary heart disease in elderly.

关 键 词：CHD 亚甲基四氢叶酸还原酶 基因多态性 同型半胱氨酸 

分 类 号：R541.4[医药卫生—心血管疾病]