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目的:探讨同型半胱氨酸(Hcy)代谢相关酶N5 ,10亚甲基四氢叶酸还原酶(MTHFR)及胱硫醚β合酶(CBS)基因突变对脑梗死的致病作用。方法:采用多聚酶链反应-限制性内切酶片段长度多态性和扩增阻滞突变体系法技术分别检测85例脑梗死患者和44名正常对照者MTHFRC677T和CBST83 3C的基因型,利用高压液相色谱法测定其血浆总同型半胱氨酸(tHcy)水平。结果:病例组MTHFR纯和突变型(T/T)、杂和型(T/C)和T等位基因型频率分别显著高于对照组(P均<0 .0 1) ;病例组CBS纯和突变型(C/C)、杂和型(C/T)和C等位基因型频率分别显著高于对照组(P均<0 .0 1)。病例组与对照组MTHFRC677T、CBST83 3C纯和突变者tHcy水平高于杂和突变和野生型者,且两基因同时纯和突变者血浆tHcy水平更高。结论:MTHFRC677T和CBST83 3C基因突变可能皆是引起高同型半胱氨酸血症(Hhcy)间接导致脑梗死的重要遗传因素。
Objective: To investigate the pathogenic effects of homocysteine (Hcy) metabolism-related enzymes N5, MTHFR and CBS gene mutations on cerebral infarction. Methods: The genotypes of MTHFRC677T and CBST83 3C in 85 patients with cerebral infarction and 44 normal controls were detected by polymerase chain reaction-restriction fragment length polymorphism and amplification-block assay. Determination of plasma total homocysteine (tHcy) levels by phase chromatography. Results: The frequencies of MTHFR pure and mutant (T / T), heterozygous (T / C) and T allele in case group were significantly higher than those in control group (all P <0.01) (C / C), heterozygous (C / T) and C allele frequencies were significantly higher than those in the control group (all P <0.01). The levels of tHcy in both MTHFRC677T and CBST83 3C pure and mutated cases were higher than those in heterozygous and wild type in the case and control groups, and the levels of tHcy in both pure and mutant plasma were higher. Conclusion: Mutations of MTHFRC677T and CBST83 3C genes may all be important genetic factors that indirectly lead to cerebral infarction caused by hyperhomocysteinemia.