Objective To explore the relationship between methylenetetrahydrofolate reductase ( MTHFR) C677T gene polymorphism and recurrent cerebral infarction in young and middle-aged people.Methods We enrolled 126 young and middle-aged patients with recurrent cerebral infarction who were admitted into the Neurology Department of the Third Affiliated Hospital of Qiqihar Medical School from January 2010 to August 2014 as relapse group.And another 130 young and middle-aged patients with first-episode cerebral infarction who were admitted into the hospital in the same period were enrolled as first-episode group.The polymerase chain reaction -restriction fragment length polymorphism ( PCR -RFLP ) method was used to analyze the MTHFR C677T gene polymorphism.Plasma total homocysteine (Hcy) level was measured using high performance liquid chromatography, and the level of vitamin B12 and folic acid were measured by automatic electrochemiluminescence immunoassay analyzer.Results The relapse group was higher ( P<0.05 ) than the first-episode group in the rate of patients with history of hypertension and smoking rate.Significant difference (P<0.05) was noted in the genotype distribution of MTHFR C677T gene between the two groups; the relapse group was higher (P <0.05) than the first -episode group in T -allele frequency.The relapse group was higher ( P <0.05 ) than the first -episode group in Hcy level in patients with TT or CC genotype; the two groups were not significantly different ( P>0.05 ) in Hcy level in patients with TC genotype.The two groups were not significantly different ( P>0.05) in the levels of vitamin B12 and folic acid in patients with CT or CC genotype; the two groups were not significantly different ( P>0.05) in the level of vitamin B12 in patients with TT genotype; the relapse group was lower than the first-episode group in the level of folic acid in patients with TT genotype.Conclusion TT genotype of MTHFR gene is an important factor for recurrent cerebral infarction in young and middle-aged people.Young and middle-aged people have high Hcy level, low vitamin B12 level and low folic acid level.We suggest that group of patients supplement vitamin B12 and folic acid in a rational way and as early as possible.%目的：探讨亚甲基四氢叶酸还原酶（ MTHFR）基因C677T位点多态性与中青年复发性脑梗死（ RIS）的关系。方法选取2010年1月—2014年8月齐齐哈尔医学院附属第三医院神经内科收治的中青年RIS患者126例为复发组，另选择同时期收治的首次发病的中青年脑梗死患者130例为首发组，采用聚合酶链反应-限制片段长度多态性法检测分析MTHFR基因C677T位点多态性；采用高效液相色谱法测定血浆同型半胱氨酸（ Hcy）水平，采用全自动电化学发光免疫分析仪检测血浆维生素B12、叶酸水平。结果复发组患者高血压病史、吸烟率均高于首发组（ P＜0.05）。两组患者MTHFR基因C677T位点基因型分布比较，差异有统计学意义（P＜0.05）；复发组患者T等位基因频率较首发组升高（P＜0.05）。复发组TT、 CC基因型患者血浆Hcy水平较首发组TT、 CC基因型患者升高（P＜0.05）；两组TC基因型患者血浆Hcy水平比较，差异无统计学意义（ P＞0.05）。两组CT、 CC基因型患者血浆维生素B12、叶酸水平比较，差异无统计学意义（P＞0.05）；两组TT基因型患者血浆维生素B12水平比较，差异无统计学意义（P＞0.05）；复发组TT基因型患者血浆叶酸水平较首发组TT基因型患者降低（ P＜0.05）。结论 MTHFR基因TT基因型是中青年RIS的重要因素， TT基因型中青年RIS患者存在高Hcy及低叶酸，建议对此类患者应尽早合理补充叶酸。
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