MTHFR基因多态性和动脉粥样硬化性脑梗塞的关系RelationBetweenMTHFRGenePolymorphismandAr.pdfVIP

遗传 HEREDITAS(Beijing)21(6):13一161999 MTHFR基因多态性与动脉粥样硬化性脑梗塞的关系① 膝 路I，赵永波2，王新春2，陈白滨1，张贵寅， 。．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) 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突变型等位基因咐（频率在实验组和对照组中，有显著性差 异(x（2一4.41,P0.05);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 RelationBetweenMTHFRGenePolymorphismand ArterioscleroticCerebralInfarction TENGLu,ZHAOYong-bog,WANGXin-chun2, CHENBai-bin,ZHANGGui-yin (1.DepartmentofMedicalGenetics,HarbinMedicalUniversity,Harbin150086,China 2.TheSecondAffiliatedHospitalofHarbinMedicalUniversity,Harbin150086,China) Abstract: InordertodetecttherelationshipbetweenMTHFR geneC677Tpolymorphism and arterioscleroticcerebralinfarction,thisstudyexaminedthegenotypeof62patientswitharterioscleroticcer- ebralinfarctionand79controlsubjectsbyPCR-RFLP,Theresultshowedthattherewassignificancedif- ferencebetweenpatientsandcontrolsubjectsinVallelefrequencyofMTHFRgeneC677Tmutation X(2一4.41,P0.05)andtherewasnodifferencebetweenpatientsandcontrolsubjectsingenotypefre- quencyofMTHFR geneC677T mutation.Therelativeriskforarterioscleroticcerebralinfactionof heterozygote(AV／AA)was1.76andthatofhomozygote(VV／AA)was3.25.Thestudyconfirmedanas- sociationbetweenmutatedalleleoftheMTHFRgeneC677Tandarterioscleroticcerebralinfarction,mu- tatedgenotypesincreasedtheriskofarterioscleroticcerebralinfarction. Keywords: Methylenetetrahydrofolatereductasegene;Arterioscleroticcerebralinfarction; PCR-RFLP MTHFR基因1994年定位于染色体1p36.3u，至今已发现导致该酶缺陷的15种突变 I〔-4)。其中C677T ①收稿日期：19