遗传 ›› 1999, Vol. 21 ›› Issue (6): 13-7.

• 论文 • 上一篇    下一篇

MTHFR基因多态性与动脉粥样硬化性脑梗塞的关系

滕 路; 赵永波; 王新春; 陈白滨; 张贵寅 TENG Lu1; ZHAO Yong-bo2; WANG Xin-chun2; CHEN Bai-bin1; ZHANG Gui-yin1   

  1. 1.哈尔滨医科大学医学遗传学研究室,哈尔滨150086 2.哈尔滨医科大学附属第二临床医院,哈尔滨150086 1.Department of Medical Genetics,Harbin Medical University,Harbin150086,China 2.The Second Affiliated Hospital of Harbin Medical University,Harbin150086,China
  • 收稿日期:1900-01-01 出版日期:1999-12-10 发布日期:1999-12-10

Relation Between MTHFR Gene Polymorphism and Arteriosclerotic Cerebral Infarction

  • Received:1900-01-01 Online:1999-12-10 Published:1999-12-10

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。
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.

关键词: PCR-RFLP
Key words,
 Methylenetetrahydrofolate reductase gene, Arteriosclerotic cerebral infarction, 动脉粥样硬化性脑梗塞, 亚甲基四氢叶酸还原酶基因, KM-1d小鼠, 简单序列长度多态性, 基因定位

Key words: KM-ld mouse, Gene location, Simple sequence length polymorphism