苏州地区汉族人GPIbα基因启动子上游“Kozak”多态性研究

Study of Kozak sequence polymorphism flanking the ATG initiator codon of platelet GPIbα gene is Suzhou Han population

目的 研究苏州地区汉族人群血小板膜糖蛋白 (GP)Ibα基因ATG启动子上游 5bp处“Kozak”(即R/S)多态性特点。方法 应用聚合酶链反应 (PCR)技术结合HaeⅢ酶切分析 ,聚丙烯酰胺凝胶电泳 ,溴乙锭染色。多态性基因频率群体分布采用Hardy Weinberg平衡检验 ,苏州地区汉族人与高加索人种基因频率差异比较采用 χ2 检验。结果 苏州地区汉族人等位基因R频率∶等位基因S频率为 0 4 86∶0 5 14 ,基因型RR、RS、SS的频率分别为 0 0 4 5、0 882、0 0 73。结论 苏州地区汉族人GPIbα基因的R/S多态性与其他人种存在显著差异 (P <0 0 5 )。

Objective To study the characteristics of Kozak sequence polymorphism flanking the ATG initiator codon of platelet glycoprotein(GP)Ibα gene in Suzhou Han population.Methods A 774bp amplified fragment of human GPIbα gene from 110 unrelated individuals was analyzed by HaeⅢ digestion.The resulting products were electrophoresed in 8% polyacrylamide gels and stained with ethidium bromide staining.Gene frequency distribution was tested by Hardy Weinberg equilibrium.Comparison of genotypic frequency between the Suzhou Han population and the Caucasians was made by χ 2 test.Results It was found that the allele frequencies of R∶S for GPIbα gene in Suzhou Han population were 0 486∶0 514.The genotypic frequencies were 0 045 for RR,0 882 for RS and 0 073 for SS.Conclusion Our data indicated that the Kozak sequence polymorphism flanking the ATG initiator codon of GPIbα in Suzhou Han population was different from that observed in other populations.