中国汉族人群P-选择素基因多态性的研究

Investigation for gene polymorphism of P-selectin in Chinese Han population

目的研究P-选择素(P-selectin)C-2123G、T-1817C、G-1969A、Thr715Pro基因多态性在中国湖北地区健康汉族人群中的分布,比较种族间的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C-2123G、T-1817C、G-1969A、Thr715Pro的基因型并计算其基因型频率及等位基因频率。结果中国汉族人群P-selectin C-2123G位点基因型以GG型频率最高,CG型次之,CC型最少,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,该位点基因型分布及等位基因频率均存在显著差异(P均<0.001)。P-selectin G-1969A位点基因型以GG型频率最高,GA型次之,未检测到AA型,男女间无显著性差异(P>0.05)。与德国和英国比较,该位点基因型分布及等位基因频率均存在显著差异(P均<0.001)。P-selectin T-1817C位点基因型以TT型频率最高,TC型次之,CC型最少,男女间也无显著性差异(P>0.05)。与英国比较,该位点基因型分布及等位基因频率均存在显著差异(P<0.01)。本次实验中未检测到Thr715Pro基因多态性。结论中国湖北地区汉族人群存在P-selectin启动子区C-2123G、G-1969A、T-1817C基因多态性,这种多态性在同种族男女间无差异,在种族间存在着较大的差异。但不存在Thr715Pro基因多态性。

Objective To study the gene polymorphism at positions C-2123 G, G-1969A, T-1817 C and Thr715 Pro in Chinese Han population of Hubei Province and compare the distributions of genotype and allele frequencies with other races. Methods The frequencies of promoter region of P-selectin gene C-2123G, G-1969A,T-1817C and ThrT15Pro genotype and allele were detected by polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） in 200 normal individuals of Chinese Han population in Hubel Province, China. Results In Chinese Han population the most frequent genotype of P-selectin at C-2123G was GG type, the second was CG type and the least was CC type. At G-1969A position GG type was the most frequent genotype,but no AA type was found. At T-1817C position TT type was the most frequent genotype of P-selectin ,while CC type was the least. No difference of P-selectin polymorphism at the above 3 positions was found between male and female（ P 〉 0.05 ）. Compared with the data of France, Germany and the UK, the distributions of genotypes at the above 3 positions of P-selectin were significantly different among various races （ P 〈 0.01 or P 〈 0.001 ）. No polymorphism of ThrT15Pro was found in this study. Conclusion In Chinese Han population the gene polymorphisms existed at the positions C-2123G, G-1969A and T-1817C of promoter region of P-selectin, and their distributions were significantly different from other races. There was no gene polymorphism at the position ThrT15Pro in Chinese Han population.