β-纤维蛋白原基因多态性与连锁不平衡分析

Analysis of β-fibrinogen Gene Polymorphism and Linkage Disequilibrium

目的:探讨纤维蛋白原β-148C/T、-249C/T、-455G/A、448G/A、1689T/G基因多态性在上海汉族人群的分布特征及连锁不平衡关系。方法:运用多聚酶链反应-限制性内切酶片段长度多态性技术,对342例正常老年组和132例脑梗死组进行纤维蛋白原基因多态性分析。结果:脑梗死组的Fg水平明显高于正常老年组。经Kappa一致性检验,-148C/T与-455G/A、448G/A、1689T/G之间存在松散连锁不平衡,-455G/A与448G/A、1689T/G以及448G/A与1689T/G之间存在强连锁不平衡,而-249C/T与-148C/T、-455G/A、448G/A、1689T/G之间为随机组合。结论:血浆纤维蛋白原与脑梗死的发生相关;连锁不平衡关系存在着种族、地域或环境的差异;提供了上海汉族人群β-Fg5种基因多态性的群体遗传学资料。

Aim： To investigate the distribution characters and linkage disequilibrium of β-fibfinogen gene -148C/T, -249C/T, -455G/A, 448G/A and 1689T/G polymorphism in Shanghai Han population. Methods： The beta-Fg gene polymovphism of 342 healthy elders and 132 patients with cerebral infarction were analyzed by polymerase chain reactionrestriction fragment length polymorphism. Results： The plasma fibfinogen levels of cerebral infarction patients were significantly higher than that of the heahhv ehlers （P 〈 0.05）. After Kappa Statistics, there was a weak linkage disequilibrium among -148C/T and -455G/A,448G/A, 1689T/G, and there was a strong linkage disequilibrium among -455G/A and 448G/A, 1689T/G or between 448G/A and 1689T/G. But the relationship among -249C/T and -148C/T, -455G/A, 448G/A, 1689T/G was a random distribution. Conclusion：There was a certain relationship between the level of plasma fibfinogen and cerebral infarction. The linkage disequilibrium might be changeable to different ethnic groups, geographic regions or environment. Moreover, this study provided some population genetics data about five β-Fg genes in Shanghai Han population.