【摘要】 【目的】探讨血浆同型半胱氨酸(homocysteine,Hcy)水平及其代谢关键酶亚甲基四氢叶酸还原酶(methylene tetrahydrofolate reductase,MTHFR)和甲硫氨酸合成酶(methionine synthetas,MTR)的基因多态性与缺血性脑卒中(ischemic stroke,IS)的相关性,明确遗传因素对血浆Hcy及缺血性脑卒中的影响。【方法】采用循环酶联免疫法检测136例缺血性脑卒中患者(IS组)和114例健康体检者(对照组)血浆Hcy浓度,使用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法检测MTHFR基因677位点及MTR基因256位点的基因型,并分析不同基因型与Hcy水平及缺血性脑卒中的相关性。【结果】病例组和对照组平均空腹血浆Hcy浓度分别为(15.33±2.49)μmol/L和(11.25±2.62)μmol/L,两组差异有统计学意义(t=12.60,P<0.001);与对照组相比,IS组MTHFR 677TT基因型、T等位基因频率、MTR 2756AG基因型、G等位基因频率均显著高于对照组(P<0.05)。将病例组和对照组作为一个研究整体发现:MTHFR TT型的平均空腹血浆Hcy浓度显著高于CC型、CT型(F=7.46,P=0.0007);MTR AG型高于AA型(t=4.05,P=0.0001)。【结论】血浆Hcy浓度升高与缺血性卒中有关,并且MTHFR 677及MTR2756基因的多态性对缺血性脑卒中患者的Hcy水平影响显著。更多还原

【Abstract】 【Objective】To explore the effects of plasma homocysteine(Hcy) level and gene polymorphism of its key metabolic enzymes methylene tetrahydrofolate reductase(MTHFR) and methionine synthetase(MTR) on ischemic stroke(IS), and study the relevance of genetic factors to plasma Hcy and ischemic stroke.【Methods】Recycling enzyme-linked immunoassay was used to detect plasma Hcy levels of 136 patients with IS(IS group) and 114 cases with health check-up(control group). Polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) method was used to detect the genotypes of MTHFR 677 and MTR 256. The relevance of different genotypes to Hcy levels and ischemic stroke was analyzed.【Results】The average fasting plasma Hcy levels in the IS group and control group were respectively(15.33±2.49) μmol/L and(11.25±2.62) μmol/L, and the difference between the two groups was statistically significant(t=12.60,P<0.001). Compared with the control group, MTHFR 677 TT genotype, T allele frequency, MTR 2756 AG genotype and G allele frequency in the IS group were significantly higher(P< 0.05). When the case group and the control group were studied as a whole, the average fasting plasma Hcy concentration of MTHFR TT type was significantly higher than those of CC and CT types(F=7.46, P=0.0007); the average fasting plasma Hcy concentration of MTR AG type was higher than that of AA type(t=4.05, P=0.0001).【Conclusion】The plasma Hcy level is associated with ischemic stroke, and the gene polymorphism of MTHFR 677 and MTR 2756 plays a significant role in Hcy levels in patients with ischemic stroke.更多还原