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MTHFR基因多态性与动脉粥样硬化性脑梗塞的关系
引用本文:滕 路,赵永波,王新春,陈白滨,张贵寅TENG Lu,ZHAO Yong-bo,WANG Xin-chun,CHEN Bai-bin,ZHANG Gui-yin.MTHFR基因多态性与动脉粥样硬化性脑梗塞的关系[J].遗传,1999,21(6):13-7.
作者姓名:滕 路  赵永波  王新春  陈白滨  张贵寅TENG Lu  ZHAO Yong-bo  WANG Xin-chun  CHEN Bai-bin  ZHANG Gui-yin
作者单位: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
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  

Relation Between MTHFR Gene Polymorphism and Arteriosclerotic Cerebral Infarction
TENG Lu,ZHAO Yong-bo,WANG Xin-chun,CHEN Bai-bin,ZHANG Gui-yin.Relation Between MTHFR Gene Polymorphism and Arteriosclerotic Cerebral Infarction[J].Hereditas,1999,21(6):13-7.
Authors:TENG Lu  ZHAO Yong-bo  WANG Xin-chun  CHEN Bai-bin  ZHANG Gui-yin
Abstract:
Keywords:KM-ld mouse  Gene location  Simple sequence length polymorphism
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