亚甲基四氢叶酸还原酶基因突变及胱硫醚β-合成酶基因突变与脑梗死的关系  

The Relation of Methylenetetrahydrofolate Reductase Gene Mutation and Cystathionine β-synthase Gene Mutation Exist in Cerebral Infarction

作　　者：涂传清[1] 黄绵清[1] 吴建曾[1] 幸思忠[1] 谢春英[1] 潘春燕[1] 蔡朝明 

机构地区：[1]深圳市宝安人民医院,深圳518101

出　　处：《血栓与止血学》2002年第4期149-151,共3页Chinese Journal of Thrombosis and Hemostasis

基　　金：深圳市宝安科技局科研项目(2000061)

摘　　要：目的:探讨亚甲基四氢叶酸还原酶(MTHFR)基因突变及胱硫醚β-合成酶(CBS)基因突变与脑梗死的关系。方法:分别用聚合酶链反应(PCR)及聚合酶链反应-限制性片段多态性(PCR-RFLP)技术,检测69例脑梗死及67例正常对照的CBS 844ins 68突变频率及MTHFR C 677 T突变频率。结果:MTHFR C 667 T及CBS 844ins 68的各种因型频率在脑梗死组和正常对照组之间无显著性差异(P>0.05)。结论:在本研究人群中,MTHFR C 677 T及CBS844ins 68基因突变可能不是脑梗死的独立危险因素。Objective: To explore the significance of gene mutation of methylenetetrahydrofolate reduc-tase(MTHFR C 667 T) and cystathionine β-synthase(CBS 844ins 68) in cerebral infarction. Methods: By polymerase chair reactio(PCR) or polymerase chair reaction and resriction fragment length polymorphism (PCR-RFLP), CBS 844ins 68 mutation and MTHFR C 667 T mutation were detected in 69 patients with cerebral infarction and 67 healthy controls. Results: There were no significant differences in the frequencies of MTHFR C 667 T and CBS 844ins 68 mutations between the patients and control groups. Conclusion: No significant difference of the frequency of MTHFR C 667 T and CBS 844ins 68 mutations between the patients and control subjects was found in this population, MTHFR and CBS polymorphism may not be associated with risk of cerebral infarction.

关 键 词：亚甲基四氢叶酸还原酶 胱硫醚Β-合成酶 基因突变 脑梗死 PCR PCR-RFLP 

分 类 号：R743.33[医药卫生—神经病学与精神病学]