急性脑梗死患者MTHFR基因多态性与血浆同型半胱氨酸水平的关系

目的 探讨急性脑梗死（ACI）患者N5,N10-亚甲四氢叶酸还原酶（MTHFR）基因多态性与血浆同型半胱氨酸（Hcy）水平的关系.方法 采用多聚酶链反应2-限制性内切酶片段长度多态性技术（PCR2-RFLP）检测48例ACI患者MTHFR基因C677T位点多态性,同时测定血浆总Hcy及血清叶酸、维生素B12、尿酸（UA）.结果 ACI患者MTHFR基因T/T型频率为35.43％,T/C型频率为56.32％,C/C型频率为8.25％;T等位基因频率为63.59％,C等位基因频率为36.41％.MTHFR基因T/T型ACI患者血浆Hcy显著高于其他两型,T/C型与C/C型血浆Hcy水平较比较无显著差异.Hcy中度与轻度增高者MTHFR基因分布比较,P≤0.05.3组基因型间叶酸、维生素B12及UA水平均无显著差异.结论 ACI患者MTHFR基因C677T突变与Hcy水平显著相关,MTHFR基因纯合突变可能是引起高Hcy的一个重要遗传因素.

Correlation between polymorphisms of MTHFRC677T gene and plasma homocysteine in patients with acute cerebral infarction

Objective To invesitgete the correlation between the polymorphisms of 5,10-methylenetetrahydrofolate reductase （MTHFR） gene and plasma homocysteine （Hcy） levels in patients with acute cerebral infarction （ACI）.Methods The polymorphisms of MTHFRC677T gene of 48 patients with ACI were analyzed by PCR2-RFLP,the plasma Hcy levels were measured by enzymatic cycling assay,and the levels of folic acid and vitamin B12 （VitB12） were measured by immunofluorescence technique.Results The frequencies of C/C,C/T and T/T genotypes were 35.43％,56.32％ and 8.25％ respectively.The frequencies of T and C alleles were 63.59％ and 36.41％ respectively.Plasma Hcy level in T/ T group was significantly higher than those of the other two groups,while plasma Hcy levels in T/C group was not significantly different as compared with that of C/C group.A correlation seemed be observed between the MTHFRC677T genotype frequencies and Hcy levels.There was no significant difference in the levels of plasma folate,VitB12 and uric acid among these three groups.Conclusion The MTHFRC677T gene mutations may be significantly associated with Hcy levels in patients with ACI and the homozygous mutation in MTHFR gene may be an important genetic factor of higher Hcy.