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目的 探讨血管紧张素 1转换酶 (ACE 1)基因和N5,N10 亚甲基四氢叶酸还原酶(MTHFR)基因多态性与缺血性脑卒中 (IS)的关系。方法 运用多聚酶链反应 限制性内切酶片段长度多态性 (PCR RFLP)技术检测 143例IS及 15 4例对照组的ACE 1和MTHFR基因多态性。结果 IS患者ACE 1基因II、ID、DD基因型频率分别为 37 1%、48 3%、14 7% ,对照组II、ID、DD基因型频率分别为 44 2 %、37 7%、18 2 % ,IS组患者的ID基因型相对危险性为对照组的 1 2倍 ;IS患者的MTHFR基因CC、CT、TT基因型频率分别为 40 5 %、45 5 %、14 0 % ,对照组的CC、CT、TT基因型频率分别为6 3 0 %、31 8%、5 2 % ,2组的TT基因型及T等位基因频率比较差异有显著性意义 ;ACE 1基因多态性与MTHFR基因多态性之间存在协同作用。结论 MTHFR基因TT、CT型可能是IS的危险因子 ,CC型可能是IS的保护因子 ,ACE 1基因与MTHFR基因间可能有协同作用
Objective To investigate the relationship between angiotensin-1 converting enzyme (ACE 1) gene and N5 and N10 methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms and ischemic stroke (IS). Methods The polymorphisms of ACE1 and MTHFR in 143 cases of IS and 154 cases of control group were detected by polymerase chain reaction restriction fragment length polymorphism (PCR RFLP). Results The frequencies of genotypes II, ID and DD of ACE1 gene in IS patients were 37.1%, 48.3% and 14.7%, respectively. The frequencies of genotypes II, ID and DD in control group were 44.2% and 37.7%, respectively %. The relative risk of ID genotype in IS group was 12 times of that in control group. The frequencies of MTHFR gene CC, CT and TT genotypes in IS patients were 40 5%, 45 5% and 140% The genotype frequency of CC, CT and TT were 6 30%, 31 8% and 52% respectively. There was significant difference in TT genotype and T allele frequency between the two groups. The polymorphism of ACE 1 gene and MTHFR There is synergy between genetic polymorphisms. Conclusions TT and CT of MTHFR gene may be risk factors of IS, CC type may be a protective factor of IS, and there may be a synergistic effect between ACE 1 gene and MTHFR gene