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目的探讨脑梗死与亚甲基四氢叶酸还原酶(MTHFR)基因多态性及血浆同型半胱氨酸(Hcy)的相关性。方法采用聚合酶链反应-限制性内切酶长度多态性(PCR-RFLP)方法分析脑梗死病人(265例)与健康人群(248例)的MTHFR基因突变的情况。利用高效液相色谱法测定血浆Hcy水平,并加以对照分析。结果脑梗死组与对照组MTH-FR基因型比较差异无统计学意义(P=0.142)。两组MTHFR的T等位基因频率相比差异无统计学意义(P=0.062)。两组Hcy水平比较差异有统计学意义(P<0.01),Hcy水平与叶酸呈负相关。结论血浆Hcy水平升高是脑梗死的危险因素之一。MTHFR基因突变可能是Hcy升高的主要影响因素。
Objective To investigate the correlation between cerebral infarction and methylenetetrahydrofolate reductase (MTHFR) gene polymorphism and plasma homocysteine (Hcy). Methods The MTHFR gene mutation in patients with cerebral infarction (265 cases) and healthy subjects (248 cases) was analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Plasma Hcy levels were measured by HPLC and compared with each other. Results There was no significant difference in MTH-FR genotype between cerebral infarction group and control group (P = 0.142). There were no significant differences in the frequencies of T alleles between the two groups (P = 0.062). Hcy levels were significantly different between the two groups (P <0.01), Hcy levels and folic acid was negatively correlated. Conclusion The plasma Hcy level is one of the risk factors of cerebral infarction. MTHFR gene mutation may be the main influencing factor of Hcy increase.