P-选择素启动子区C-2123G、T-1817C基因多态性的研究

目的研究P-选择素(P-selectin)基因启动子区C-2123G、T-1817C多态性在中国湖北地区健康汉族人群中的分布,同时比较不同种族间基因型及等位基因频率分布差异.方法应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)的分析方法,检测200名健康者P-selectin基因启动子区C-2123G、T-1817C的基因型并计算其基因型频率及等位基因频率.结果中国湖北地区健康人群P-selectin C-2123G基因各基因型频率:CC型8.0%,CG型40.5%,GG型51.5%;C,G各等位基因频率分别为28.2%,71.8%,这种基因多态性分布在男女间无显著性差异(P＞0.05).与德国和英国比较,发现不同种族间P-selectin C-2123G基因型分布及等位基因频率均存在显著差异(P＜0.001,P＜0.001).P-selectin T-1817C基因各基因型频率:TT型65.5%,TC型28.5%,CC型6.0%;T,C各等位频率分别为79.75%,20.25%,这种基因多态性分布在男女间无显著性差异(P＞0.05).与英国比较,发现不同种族间P-selectin T-2123基因型分布及等位基因频率均存在显著差异(P＜0.001).结论中国湖北地区汉族人群中存在P-selectin启动子区C-2123G、T-1817C基因多态性,这种多态性在同种族男女间无差异,在各族间存在着较大的差异.

Investigation of the gene polymorphism at position C-2123G and T-1817C in promoter of P-selectin

Objective:To study gene polymorphism at position C-2123G and T-1817C in promoter region of P-selectin in the Chinese Han population of Hubei,and to compare distributions of genotype and allelc frequencies among different races and different gender in the same race.Methods:The frequency of promoter region of P-selectin gene C-2123G and T-1817C genotype and allele were detected by using the method of polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) in 200 normal chinese Han population of Hubei area.Results:In Hans crowd of the Area Hubei,China the genetype frequency of P-selectin C-2123G:CC was 8.0%,CG was 40.5%,GG was 51.5%,respectively;The allele gene frequency of P-selectin C-2123G:G was 28.2%,G was 71.8%,these gene polymorphism had no difference between male and female(P>0.05).Compared with France and England,the distributions of P-selectin genotype were significantly different among ethnics(P<0.001,P<0.001).The genetype frequency of P-selectin T-1817C:TT was 54.5%,TC was 28.5%,CC was 6.0%,respectively;The allele gene frequency of P-selectin T-1817C:T was 79.75%,C was 20.25%,these gene polymorphism had no difference between male and female(P>0.05).Compared with England,the distributions of P-selectin genotype were significantly different among ethnics(P<0.001).Conclusion:The gene polymorphism at position C-2123G and T-1817C in promoter region of P-selectin were exiting in normal Han population of Hubei,and its distribution were significantly different among ethnics.