MTHFR基因多态性及血浆同型半胱氨酸水平与脑卒中的关系  

The relationship of polymorphisms of MTHFR gene and plasma homocysteine levels with stroke

作　　者：周宪梁[1,2] 胡爱华[1,2] 惠汝太 高润霖[1,2] 刘力生 李亚政[1,2] 任武贤 黄其擎 张春玲 

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中德分子医学研究室 [2]山西芮城制药厂科研所

出　　处：《中华心血管病杂志》1999年第2期121-123,共3页Chinese Journal of Cardiology

基　　金：中国博士后科学基金

摘　　要：目的研究Ｎ５，Ｎ１０亚甲四氢叶酸还原酶（ＭＴＨＦＲ）基因多态性及血浆同型半胱氨酸（Ｈｃｙ）水平与脑卒中的关系。方法运用多聚酶链反应限制性内切酶片段长度多态性技术（ＰＣＲＲＦＬＰ）检测８０例脑卒中及１１０例正常人ＭＴＨＦＲ基因多态性，用高效液相色谱仪和荧光检测仪测定８０例脑卒中及１１０例正常人血浆总Ｈｃｙ水平。结果发现ＭＴＨＦＲ基因型有３种，即纯合子突变（＋／＋）型，杂合子突变（＋／－）型，正常（－／－）型。患者组中＋／＋型频率为３１．２５％，＋／－型频率为５６．２５％，－／－型频率为１２．５％，Ｔ等位基因频率为５９．３７％，Ｃ等位基因频率为４０．６２％。正常组中＋／＋型频率为１８．１８％，＋／－型频率为２０．０９％，－／－型频率为５２．７２％，Ｔ等位基因频率为３２．７２％，Ｃ等位基因频率为６２．２７％，两组差异有显著性，且患者组中＋／＋和＋／－型均高于正常组。脑卒中患者血浆总Ｈｃｙ水平显著高于正常组。结论脑卒中患者ＭＴＨＦＲ基因纯合子突变和杂合子突变发生率均显著高于正常组，而Ｔ等位基因频率也明显高于正常组，说明ＭＴＨＦＲ基因突变及高同型半胱氨酸血症与脑卒中发生有一定关系，ＭＴＨＦＲ基因可能是脑卒中的易?Objective To study the relationship of polymorphisms of MTHFR gene and plasma homocysteine (Hcy) levels with stroke.Methods 80 stroke patients and 110 normal subjects were recruited in the study. Their polymorphisms of MTHFR gene were analyzed using PCR RFLP and their plasma total Hcy levels were measured using high performance liquid chromatography with fluorescence detection. Results There were three kinds of genotype: +/+ (homozygous mutation), +/- (heterozygous mutation) and -/- (wild type). The frequencies of the three genotypes were as follows: +/+, 31.25%; +/-, 56.25%; -/-, 12.5% in stroke patients and +/+, 18.18%; +/- 29.09%; -/-, 52.72% in normal subjects, respectively. The frequency of T alleles was significantly higher in stroke patients than that in normal controls (59.37% and 32.72% , respectively). Mean total plasma homocysteine concentrations were significantly higher in stroke patients than in the normal subjects. Conclusions The frequency of homozygous and heterozygous MTHFR mutation in stroke patients were higher than that in controls and the T alleles in stroke patients was significantly more frequent than that in control subjects. Plasma Hcy levels in stroke patients is higher than that in normal subjects. These results suggest that polymorphisms of MTHFR gene and hyperhomocysteinemia may be an independent risk factor for stroke.

关 键 词：脑血管意外 半胱氨酸 MTHFR基因 基因多态性 

分 类 号：R743.302[医药卫生—神经病学与精神病学]