同型半胱氨酸代谢酶MTHFR、CBS、MS基因多态性与脑梗死患者颈动脉狭窄的相关性  

Relationship between MTHFR,CBS,MS gene polymorphisms of homocysteine metaboli enzymes and carotid artery stenosis in cerebral infarction patients

作　　者：刘斌[1] 田冉[1] 高端[1] 郭志义[2] 

机构地区：[1]河北联合大学附属医院神经内一科,河北唐山063000 [2]河北联合大学实验中心,河北唐山063000

出　　处：《中国现代医学杂志》2011年第33期4103-4108,共6页China Journal of Modern Medicine

摘　　要：目的探讨同型半胱氨酸(Hcy)代谢酶亚甲基四氢叶酸还原酶(MTHFR)基因C677T、胱硫醚β-合成酶(CBS)基因844ins68、T27796C和甲硫氨酸合成酶(MS)基因A2756G基因多态性与脑梗死患者颈动脉狭窄的相关性。方法脑梗死组135例,对照组65例,采用聚合酶链反应一限制性内切酶片段长度多态性技术(PCR-RFLP)检测基因表型。方法①脑梗死组MTHFRC677T突变(TT)基因型及T等位基因频率显著高于对照组(均P<0.05);脑梗死伴中重度颈动脉狭窄组MTHFRC677T突变(TT)基因型及T等位基因频率高于脑梗死伴轻度颈动脉狭窄组和脑梗死无颈动脉狭窄组(均P<0.05)。②脑梗死组CBST27796C突变(CC)基因型及C等位基因频率显著高于对照组(均P<0.05);脑梗死伴中重度颈动脉狭窄组T27796C突变(CC)基因型及C等位基因频率高于脑梗死伴轻度颈动脉狭窄组和脑梗死无颈动脉狭窄组(均P<0.05)。CBS844ins68位点多态性,未发现突变。③脑梗死组MSA2756G突变(AG)基因型及G等位基因频率与对照组比较无显著性差异(均P>0.05)。脑梗死伴中重度狭窄组MSA2756G突变(AG)基因型及G等位基因频率与脑梗死伴轻度颈动脉狭窄组和脑梗死无颈动脉狭窄组比较均无显著性差异(均P>0.05)。结论 MTHFR基因C677T位点、CBS基因T27796C位点突变与脑梗死颈动脉狭窄及其程度相关,MS基因A2756G位点突变与脑梗死颈动脉狭窄及其程度无关。[Objective] To explore the relationship between MTHFR, CBS, MS gene polymorphisms of homocysteine metaboli enzymes and cerebral infarction patients with carotid artery stenosis. [ Methods ] The genotypes of 135 cerebral infarction patients and 65 control group were analyzed through the polymerase chain reaction-restric- tion fragment length polymorphism （PCR-RFLP）. [Results] （1） The frequencies of MTHFR TT homogenetie type and allele T in cerebral infarction group were significantly higher than that in the control group （all P 〈0.05）. The frequencies of MTHFR TI~ homogenetie type and allele T in the cerebral infarction patients with moderate to .severe stenosis group was significantly higher than in the slight stenosis group and the no stenosis group （all P 〈0,05）. （2）The frequencies of CBST27796 C CC homogenetic type and allele C in the cerebral infarction group we,＇e signifi- cantly higher than that in the control group （all P 〈0.05）. The frequencies of CBST27796 C CC type and allele C in the cerebral infarction patients with moderate to severe stenosis group was significantly higher than in the slight stenosis group and the no stenosis group （all P 〈0.05）, and no mutation in CBS844ins68. （3） The frequencies of MS A2756G AG homogenetic type and allele G were no significant differences in the cerebral infarction group and the control group （all P 〉0.05）. The frequencies of MS A2756G AG homogenetic type and allele G were no significant differences among in the cerebral infarction patients with moderate to severe stenosis group, slight stenosis group and the no stenosis group （all P 〉0.05）. [Conclusion] Mutation of MTHFR C677T, CBS T27796C are associated with the cerebral infaretion patients with carotid stenosis, while MS A2756G has no relation with the cerebral infarction patients with carotid artery stenosis.

关 键 词：脑梗死 颈动脉狭窄 同型半胱氨酸 基因多态性 

分 类 号：R743[医药卫生—神经病学与精神病学]