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目的探讨脑梗死患者5,10-亚甲基四氢叶酸还原酶基因(MTHFR)C677T多态性特点,分析与血浆同型半胱氨酸(Hcy)表达水平的相关性。方法收集110例脑梗死患者作为观察组,并选择同期入院体检的100例健康体检者作为对照组,利用限制性片段长度多态性扩增技术(PCR-RFLP)分析两组受试对象MTHFR基因C677T基因型及其出现频率的分布特点,采用荧光偏振免疫分析法测定不同基因型个体血浆Hcy表达水平的差异,并行统计学对比。结果观察组患者MTHFR基因C677T CC型占21.8%、CT型占52.7%、TT型占25.5%,两组受试对象MTHFR基因C677T CC型、CT型、TT型分布频率无明显差异(P>0.05);观察组脑梗死患者中MTHFR基因C677T CC型者血浆Hcy(10.8±1.7)μmon/L,低于CT型者(P<0.05),更低于TT型者(P<0.05)。对照组受试对象不同基因型者血浆Hcy表达水平较为接近,无统计学意义的差异(P>0.05)。结论MTHFR基因C677T的3中基因型出现频率在脑梗死和健康群体中无明显差异,不同MTHFR基因型的脑梗死患者血浆Hcy表达水平不同,MTHFR基因型与Hcy水平存在相关性。
Objective To investigate the polymorphism of 5,10-methylenetetrahydrofolate reductase gene (MTHFR) C677T in patients with cerebral infarction and its correlation with plasma homocysteine (Hcy) expression. Methods One hundred and ten patients with cerebral infarction were selected as the observation group and 100 healthy subjects were selected as the control group. The MTHFR gene of two groups were analyzed by PCR-RFLP C677T genotypes and the frequency of their distribution. Fluorescence polarization immunoassay was used to determine the difference of plasma homocysteine levels in different genotypes, and the results were compared statistically. Results The MTHFR gene C677T CC genotype accounted for 21.8%, CT genotype accounted for 52.7% and TT genotype accounted for 25.5% in the observation group. There was no significant difference in the frequencies of MTHFR gene C677T CC genotype, CT genotype and TT genotype between the two groups (P> 0.05 ). The Hcy (10.8 ± 1.7) μmon / L in the MTHFR gene C677T CC group was lower in the observation group than in the CT type (P <0.05) and lower in the TT type (P <0.05). The plasma homocysteine levels in different genotypes of the control subjects were similar, with no significant difference (P> 0.05). Conclusion There is no significant difference in genotype frequency of MTHFR genotype C677T among cerebral infarction and healthy subjects. Plasma Hcy expression levels are different in patients with MTHFR genotype and MTHFR genotype is associated with Hcy level.