缺血性脑卒中中医证型与MTHFR基因C677T和A1298C多态性的相关性研究

摘要

Objectve To explore the association between two syndromes (ascendant hyperactivity of liver yang,phlegm blocking resistance;yin deficiency wind stirring type,Qi-deficiency and blood stasis type) defined by traditional Chinese medicine in the methylene tetrahydrofolate reductase (MTHFR) the gene polymorphism.Methods C677T and A1298C polymorphism of MTHFR gene from peripheral blood was examined in 174 cases by polymerase chain reaction (PCR) amplification and restrict ion fragment length polymorphism (RFLP).Results For the C677T sites,the genotypes frequency of CC and TT were 32.9％,12.8％ in TCM Excessive Syndrome group and 52.6％,5.3％ in the TCM deficiency-syndrome group,respectively.T allele frequencies were:40.5％ and 26.3％.The difference of the frequency distribution was statistically significant.Conclusion The genotypes frequency of AA,AC,CC of MTHFR A1298C and the C allele frequency in the two groups were no significant difference.%目的 探讨缺血性脑卒中不同中医证型与亚甲基四氢叶酸还原酶(MTHFR)基因C677T和A1298C位点基因多态性的相关性.方法 174例缺血性脑卒中患者根据中医辨证分为:实证组(肝阳上亢、痰湿壅阻)79例；虚证组(阴虚风动、气虚血瘀)95例.运用聚合酶链反应-限制性片段长度多态性分析法(PCR-RFLP)检测MTHFR基因C677T和A1298C位点基因多态性.结果 对于C677T位点,CC、TT基因型的分布频率实证组为:32.9％、13.9％,虚证组为:52.6％、5.3％,T等位基因频率分别为:40.5％和26.3％,频率分布差异有统计学意义.对于A1298C位点,两组的AA、AC、CC3种基因型及C等位基因频率分布均无显著性差异.结论 MTHFR基因C677T位点基因多态性及T等位基因与肝阳上亢、痰湿壅阻证IS的发生显著相关,而A1298C位点基因多态性与不同证型的缺血性脑卒中发生未发现相关.