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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。
Objective: To investigate the distribution and linkage disequilibrium of fibrinogen β-148C / T, -249C / T, -455G / A, 448G / A and 1689T / G polymorphisms in Shanghai Han population. Methods: Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to analyze the polymorphism of fibrinogen in 342 normal elderly patients and 132 cerebral infarction patients. Results: Fg levels in cerebral infarction group were significantly higher than those in normal aged group. There was a loose linkage disequilibrium between -148C / T and -455G / A, 448G / A, and 1689T / G with -455G / A and 448G / A, 1689T / G and 448G / A with 1689T / G have a strong linkage disequilibrium between -249C / T and -148C / T, -455G / A, 448G / A, 1689T / G for a random combination. CONCLUSION: Plasma fibrinogen is associated with the occurrence of cerebral infarction. There are ethnic, regional or environmental differences in linkage disequilibrium. Population genetic data of β-Fg5 polymorphisms in Shanghai Han population are provided.