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MTHFR基因C667T多态性与动脉血栓性脑梗死的关联性研究 被引量:4

Study of association between MTHFR gene C667T polymorphism and atherothrombotic infarction
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摘要 目的研究亚甲基四氢叶酸还原酶(MTHFR)基因C667T多态位点对血浆同型半胱氨酸(Hcy)水平的影响及其与动脉血栓性脑梗死的相关性。方法选取年龄、性别及危险因素匹配的动脉血栓性脑梗死患者和对照组各84例,采用荧光定量法测定血浆Hcy水平,采用PCR-RFLP技术对MTHFR基因C667T位点进行分型。结果病例组和对照组中MTHFR基因C667T位点基因型TT携带者血浆Hcy水平显著高于基因型CC及CT携带者(病例组:t=2.292,P=0.024;对照组:t=2.098,P=0.039)。两组间基因型和等位基因频率分布差异无统计学意义(基因型:χ2=1.313,P=0.519;等位基因:χ2=1.296,P=0.255)。结论 MTHFR基因C667T位点等位基因T可能与血浆Hcy水平升高有关,但等位基因T可能不是动脉血栓性脑梗死的主要危险因素。 Objective To investigate the influence of methylenetetrahydrofolate reductase (MTHFR) gene C667T poly- morphism on plasma homocysteine(Hcy) level and the association between C667T polymorphism and atherothrombotic infarction. Methods Eighty-four patients with atherothrombotic infarction and 84 age, sex, and risk factors-matched subjects were recruited. Plasma Hcy levels were determined by fluorescence ration biochemical assay kit. Genotypes were detected by PCR-RFLP. Results In both groups, the plasma Hcy levels for genotype TY were significantly higher than those for genotype CC and CT (patients: t = 2.292, P = 0.024; controls: t = 2.098, P = 0.039). No significant difference was found in the distribution of genotypes and alleles between patients and controls(genotype:x2=1.313, P = 0.519; allele:x2=1.296, P = 0.255). Conclusion Allele T of'MTHFR gene C667T plays a role in elevating plasma Hcy levels, but it may not be a major risk factor for atherothrombotic infarction.
出处 《中国现代医生》 2013年第17期32-34,共3页 China Modern Doctor
基金 广东省佛山市卫生局医学科研课题(2011498)
关键词 亚甲基四氢叶酸还原酶 基因多态性 同型半胱氨酸 动脉血栓性脑梗死 Methylenetetrahydrofolate reductase Gene polymorphism Homocysteine Atherothrombotic infarction
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