血栓性疾病患者血小板膜糖蛋白Ⅵ基因T13254C多态性研究

Study on T13254C polymorphism of the platelet membrane glycoprotein Ⅵ in Chinese Han population

目的 研究我国汉族人群中血小板膜糖蛋白Ⅵ (GPⅥ )基因T13254C多态性分布特征及其与动脉血栓性疾病的相关性。方法 应用PCR结合限制性片段长度多态性技术研究我国 4个不同地区 314名汉族健康人和 274例动脉血栓性疾病患者GPⅥ基因T13254C多态性分布特点,并分析该多态性位点与血栓性疾病之间的关系。结果 我国部分汉族健康人群中GPⅥ基因 13254位T和C等位基因频率分别为 0. 9809和 0. 0191,实际杂合率为 0. 0319,与西方人群该位点多态性分布特征比较,差异有统计学意义(P<0. 01);动脉血栓性疾病患者该多态性位点等位基因频率和基因型与健康对照者比较,差异无统计学意义 (P>0. 05)。结论 GPⅥ基因T13254C多态性改变在我国部分汉族人群中发生率较低,与动脉血栓性疾病的发生无明显相关性。

Objective To investigate the T13254C polymorphism frequency in GPⅥ gene among Chinese Han population and its relevance to the arterial thrombotic diseases. Methods The enrolled population in this study consisted of 314 healthy subjects and 274 patients with myocardial or cerebral infarctions. GPⅥ T13254C genotypes were determined by PCR amplification of a 355 bp fragment encompassing exon 5 of GPⅥ gene, followed by Msp Ⅰ digestion of the product. The digested products were analyzed in 15% polyacrylamide gel electrophoresis (PAGE). Results The frequencies of the T allele and C allele in the T13254C polymorphism were 0.9809 and 0.0191, respectively, with a frequency of heterozygous of 0.0319, which were significantly different from those reported in western population (P<0.01). As compared with controls, no significant difference in T13254C genotype distribution was found in the arterial thrombotic diseases group. Conclusion The GPⅥ T13254C polymorphism appears in a low frequency in Chinese Han population. No relationship is found between T13254C polymorphism and the risk for thrombotic diseases.