中国南方汉族人MTHFR基因多态性与缺血性脑卒中的遗传易感性研究

目的 :研究中国南方汉族人 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技术 (PCR RFL P)检测 14 3例 IS患者及 15 4例对照组患者 MTHFR基因多态性。结果 :IS患者中 TT型频率为 14 .0 % ,CT型频率为 4 5 .5 % ,CC型频率为 4 0 .5 % ,T等位基因频率为 36 .7% ,C等位基因频率 6 3.4 % ;对照组中 TT型频率为 5 .2 % ,CT型频率为 31.8% ,CC型频率为 6 3.0 % ,T等位基因频率为 2 1.1% ,C等位基因频率为 78.9%。2组各频率间差异有显著性 ;普通型和重型组间差异无显著性 ;TT基因型、T等位基因与 IS显著相关。结论 :MTHFR基因多态性与IS有一定关系 ,MTHFR基因可能是 IS的易感基因 ,对人群进行大规模筛选 ,早期对 TT和 CT基因型的人群进行维生素干预 ,对预防 IS的发生有一定价值。

Genetic research between polymorphisms of methylenetrahydrafolate reductase gene and ischemic stroke in Han people in south-China

Objective:To study the relationship of polymorphisms of methylenetrahydrafolate reductase (MTHFR) gene and ischemic stroke(IS) in Han people in southchina.Methods:One hundred and fortythree IS patients and 154 controls were recruited in the study,their polymorphisms of MTHFR gene were analyzed using PCRRFLP.Results:The frequencies of the genotypes were as follows:TT14 0%,CT45 5%,CC40 5% in IS patients and TT5 2%,CT31 8%,CC63 0% in normal subjects,respectively.The frequencies of T alleles was significantly higher in IS patients than that in controls (36 7% and 21 1%,respectively),but there was not significantly different between ordinary and severe degree of IS patients,and there was significantly associated between TT genotype and T allele and IS.Conclusions:There was association between polymorphisms of MTHFR gene and IS,MTHFR gene may be risk factor for IS,and it is good for preventing IS by selecting those people whose genotype were TT or CT and giving them vitamine.