MTHFR C677T和CBS G919A基因突变与青年缺血性脑卒中的相关性研究

Research of dependablity between gene mutation of MTHFR C677T and CBS G919A and cerebral arterial thrombosis in youth

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)及胱硫醚β合成酶(CBS)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C677T位点和CBS基因G919A位点进行检测。结果:MTHFR C677T基因检测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有统计学意义(P<0.05)。CBS G919A基因检测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 C677T和CBS G919A突变均导致血浆Hcy浓度明显增高。MTHFR C677T多态性位点是青年缺血性脑卒中的独立危险因子。CBS G919A基因突变与青年缺血性脑卒中发病无相关性。

Objective To investigate the relationship beween gene mutation of hyperhomocysteinemia, the key enzyme of homoeysteie acid （Hcy） metabolism （N5, N10 - MTHFR）, CBS and cerebral arterial thrombosis in youth. Method Using case cross -check analysis, Hcy levels of both empty stomach and post - burden in the subjects were detected by high efficiency liquid chromatography. C677T of MTHFR and G919A of CBS 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 in C677T of MTHFR between the two groups had statistical significance （P 〈 0.05）. The difference of genetype disposition, homo zygote rate and allele frequency in G919A of CBS between the two groups had no statistical significance （P 〉0.05）. Conclusion Gene mutation of MTHFR C677T and CBS G919A can both raise the Hcy concentration or blood plasma. Polymorphism site in MTHFR C677T is the independent danger factor of cerebral arterial thrombosis in youth, and gene mutation of CBS G919A has no relationship with the onset of cerebral arterial thrombosis in youth.