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MTHFR基因多态性与动脉粥样硬化性脑梗塞的关系 |
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滕 路, 赵永波, 王新春, 陈白滨, 张贵寅
摘 要: 采用PCR-RFLP技术，检测了62例动脉粥样硬化性脑梗塞患者和79名对照者的C677T突变的基因型。结果发现, MTHFR基因C677T 突变型等位基因(V)频率在实验组和对照组中，有显著性差异(χ2＝4.41，P<0.05)；三种基因型频率在两组人群中均无显著性差异。基因型频率的相对风险分析，AV基因型比AA基因型患脑梗塞风险高1.76倍；VV基因型比AA基因型患脑梗塞风险高3.25倍。结果表明, MTHFR基因C677T突变型等位基因与动脉粥样硬化性脑梗塞有一定的关联，突变基因型增加了动脉粥样硬化脑梗塞的发病风险。
关键词: 亚甲基四氢叶酸还原酶基因;动脉粥样硬化性脑梗塞;PCR-RFLP
中图分类号: Q986,R446 文献标识码: A 文章编号: 0253-9772(1999)06-0013-16
Relation Between MTHFR Gene Polymorphism and
Arteriosclerotic Cerebral Infarction
TENG Lu1, ZHAO Yong-bo2, WANG Xin-chun2,
CHEN Bai-bin1, ZHANG Gui-yin1
(1.Department of Medical Genetics,Harbin Medical University,Harbin150086,China
2.The Second Affiliated Hospital of Harbin Medical University,Harbin150086,China)
Abstract: In order to detect the relationship between MTHFRgene C677Tpolymorphism and arteriosclerotic cerebral infarction, this study examined the genotype of 62 patients with arteriosclerotic cerebral infarction and 79 control subjects by PCR-RFLP. The result showed that there was significance difference between patients and control subjects in V allele frequency of MTHFRgene C677Tmutation (χ2＝4.41，P<0.05) and there was no difference between patients and control subjects in genotype frequency of MTHFRgene C677Tmutation. The relative risk for arteriosclerotic cerebral infaction of heterozygote (AV/AA) was 1.76 and that of homozygote (VV/AA) was 3.25. The study confirmed an association between mutated allele of the MTHFRgene C677Tand arteriosclerotic cerebral infarction, mutated genotypes increased the risk of arteriosclerotic cerebral infarction.
Key words: Methylenetetrahydrofolate reductase gene;Arteriosclerotic cerebral infarction;PCR-RFLP
MTHFR基因1994年定位于染色体1p36.3〔1〕, 至今已发现导致该酶缺陷的15种突变〔1～4〕。其中C677T突变导致酶的热不稳定性缺陷，可引起高半胱氨酸血症，后者与多种疾病的发病风险有关〔5〕。本研究应用PCR-RFLP技术分析了62例脑梗塞患者与79例对照者的基因型，探讨MTHFR基因C677T多态性与动脉粥样硬化性脑梗塞的关系。
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