P-选择素启动子区C-2123G、T-1817C基因多态性的研究

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

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。

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 frgmnent 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 significandy different among ethnics （ P 〈 0.1301, P 〈 0.001） .The genetype frequency of P- selecfin 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 signifieandy 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 significandy different among etlmics.