MTHFR和CBS基因多态性与脑梗死

Genetic Polymorphisms of MTHFR Gene and CBS Gene and Cerebral Infarction

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。

Aim:To study the effect of gene mutations of methylenetetrahydrofolate reductase (MTHFR) and cystathionine β-synthase(CBS) in cerebral infarction.Methods:MTHFR C677T and CBS T833C genetype were analyzed by PCR-RFLP and PCR-AMRS technologies.The plasma homocystine level was measured by high performance liquid chromatography methods in 85 patients with cerebral infarction and 44 normal individuals. Results:The frequencies of MTHFR T/T,T/C genetypes and T alleles in cases were markedly higher than those respectively in control group( P <0.01). The frequencies of C/C,C/T genetypes and C alleles in cases were markedly higher than those respectively in control group( P <0.01). The plasma homocystine levels with chomogenotype of MTHFR C677T,CBS T833C genetic mutation were obviously higher than that of heterogenetic types and without mutation in two groups,respectively;moreover,the plasma homocystine levels with chomogenotype of MTHFR and CBS genetic mutation meanwhile was higher. Conclusions:The genetic mutations of MTHFR and CBS were possibly all the reasons of Hhcy ,indirectly an important genetic risk factor in cerebral infarction.