N_5,N_(10)-亚甲基四氢叶酸还原酶(MTHFR)A1298C基因突变与青年缺血性脑卒中的相关性

Dependability of cerebral arterial thrombosis in youth and A1298C gene mutation in methylene tetrahydrofolate reductase

目的:探讨同型半胱氨酸血症、同型半胱氨酸(Hcy)代谢关键酶N5,N10-亚甲基四氢叶酸还原酶(MTHFR)基因突变与青年缺血性脑卒中的关系。方法:采用病例对照分析方法,以高效液相色谱法测定受试者空腹及负荷后血浆Hcy水平,采用聚合酶链-限制性内切酶片段长度多态性分析(PCR-RFLP)和扩增阻滞突变体系法,对100例青年缺血性脑卒中患者和100例对照者的MTHFR基因A1298C位点进行检测。结果:MTHFR病例组和对照组基因型分布、纯合子频率和等位基因频率差异均无统计学意义(P>0.05)。结论:MTHFR A1298C突变导致血浆Hcy浓度明显增高。MTHFR A1298C基因突变与青年缺血性脑卒中发病无相关性。

Objective To explore the relationship beween gene mutation of hyperhomocysteinemia, methylene tetrahydrofolate reduc- tase （MTHFR） which is the key enzyme of homocysteic acid （Hey） metabolism and cerebral arterial thrombosis in youth. Method Using case cross - check analysis, Hey levels of both empty stomach and post - burden in the subjects were detected by high efficiency liquid chromatography. A1298C of MTHFR among 100 young patients with cerebral arterial thrombosis and the controls of the same quantity were detected by PCR - RFLP and amplification blockage mutant system. Results The difference of genetype disposition, homozygote rate and allele frequency between the two groups had no statistical significance （P 〉 0.05 ）. Conclusion Gene mutation of MTHFR A1298C can raise Hey level of blood plasma. There is no relationship between cerebral arterial thrombosis in youth and gene mutation of MTHFR.