脑梗死患者与其血浆同型半胱氨酸水平及MTHFR基因关系的研究

Relationship between Patients with Cerebral Infarction and Plasma Homocysteine Levels Associated MTHFR Gene

目的 探讨脑梗死(CI)患者与其血浆同型半胱氨酸(homocystine,HCY)水平及N5,10-亚甲基四氢叶酸还原酶(MTHFR)基因的关系。方法 应用高效液相色谱仪和电化学检测法测定1998-02-2001-02收治的84例CI患者和78名正常老年人血浆总HCY水平,运用多聚酶链反应-限制性内切酶片段长度多态性技术(PCR-RFLP)检测MTHFR基因多态性,同时测定血浆叶酸及维生素B12水平。 结果 CI患者血浆总HCY水平显著高于正常对照组;MTHFR基因型有3种,即纯合子(T/T)型、杂合子(T/C)型、纯合子(C/C)型。3组基因型和等位基因频率相比,差异均无显著性;CI组血浆叶酸及维生素B12水平明显低于正常对照组(P<0.05)。 结论高HCY血症可能是CI患者发病的一个新危险因素。

Objective To study the relationship between patients with cerebral infarction (CI) and plasma homocysteine levels associated MTHFR gene. Methods 84 patients with CI and 78 normal aged subjects were recruited in the study. Their plasma total homocystine levels were measured using high-performance liquid chro-matography with electrochemical detection. The polymorphisms of MTHFR gene were analyzed using PCR-RFLP. Plasma folate, serum vitamin B12 were determined for all cases. Results Mean total plasma homocysteine concentrations were significantly higher in CI patients than the normal elderly subjects ( P < 0.001). There were three kinds of genotype: T/T (homozygous mutation), T/C (heterozygous mutation) and C/C (wild-type). There were no significance between the frequencies of the genotypes and alleles of MTHFR gene in three groups ( P > 0. 05). Plasma folate, serum vitamin B12 concentrations were significantly lower in CI group than in control group( P <0. 05). Conclusions Hyperhomocysteinemia may be a new risk factor for CI.