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目的探讨 α-纤维蛋白原基因Thr312Ala多态性及其与脑血栓形成之间是否存在关联性。方法 153例脑血栓形成患者(脑梗死组)和年龄、性别相匹配的158例内科住院患者及健康体检者(对照组),采用聚合酶链反应-限制性片断长度多态性检测Thr312Ala多态性,用Stadtmanl改良法和磁珠法测定其血浆胆固醇及纤维蛋白原(FIB)的水平,并分析基因多态性、血浆胆固醇水平、FIB水平和脑血栓形成之间的关联性。结果 1等位基因和1/1基因型在脑梗死组中的分布水平明显低于对照组;1等位基因与脑梗死有显著的负相关;2等位基因与脑梗死有显著的正相关;脑梗死组的胆固醇和FIB水平均显著高于对照组。Ihr312Ala基因型分层,1/1型和1/2型的脑梗死患者血浆胆固醇水平显著高于对照组;2/2型脑梗死患者血浆FIB水平显著高于对照组。结论α-纤维蛋白原基因Thr312Ala多态位点的1等位基因可能对抑制脑梗死的形成起到积极作用,这种作用可能通过影响血浆FIB水平的途径来实现的。2等位基因关联于脑血栓形成。
Objective To investigate whether Thr312Ala polymorphism of α-fibrinogen gene is associated with cerebral thrombosis. Methods A total of 153 inpatients with cerebral thrombosis (cerebral infarction group) and 158 age-and-gender-matched inpatients and healthy subjects (control group) were enrolled in this study. The Thr312Ala polymorphism was detected by polymerase chain reaction-restriction fragment length polymorphism The levels of plasma cholesterol and fibrinogen (FIB) were determined by modified Stadtmanl method and magnetic beads method. The association of gene polymorphism, plasma cholesterol, FIB level and cerebral thrombosis was also analyzed. Results The distribution of allele 1 and allele 1 in cerebral infarction group was significantly lower than that in control group. There was a significant negative correlation between allele 1 and cerebral infarction. There was a significant positive correlation between 2 allele and cerebral infarction The levels of cholesterol and FIB in cerebral infarction group were significantly higher than those in control group. Ihr312Ala genotype stratification, 1/1 type and 1/2 type of cerebral infarction patients with plasma cholesterol levels were significantly higher; 2/2 cerebral infarction patients with plasma FIB levels were significantly higher than the control group. Conclusion The 1 allele of the Thr312Ala polymorphism site of α-fibrinogen gene may play an active role in inhibiting the formation of cerebral infarction. This effect may be achieved by affecting the plasma FIB level. 2 allele is associated with cerebral thrombosis.