中国广西人群P-选择素基因rs6131 C/T多态性的研究

目的研究P-选择素基因单核苷酸多态性rs6131C/T等位基因及其基因型在中国广西地区人群中的分布频率,并比较其与不同种族间分布的差异。方法采用单碱基延伸PCR扩增技术和DNA测序检测199例中国广西人群的P-选择素基因rs6131C/T多态性,并与人类基因组计划（HapMap）公布的欧洲人、非洲人、日本人和中国北京人的SNP分型数据比较,分析这5个人群的基因型及等位基因的分布频率。结果 P-选择素基因rs6131C/T存在多态性,其基因型及等位基因频率男女组间比较无统计学意义（P〉0.05）,但与非洲人、日本人比较存在显著性差异（P〈0.05）,与欧洲人和北京人比较差异无统计学意义（P〉0.05）。结论在中国广西人群中P-选择素基因rs6131C/T存在多态性,与其他种族人群比较存在差异,这种差异对于人类学的研究可能起重要的作用。

Genetic polymorphism of P-selectin gene rs6131 C/T in Chinese Guangxi populations

Objective To study the distribution of allele and genotype frequencies of P-selectin gene rs6131 C/T with single nucleotide polymorphism （SNP） in Chinese Guangxi populations, and to compare the difference distributions of P-selectin polymorphism among different races. Methods The P-selectin gene rs6131 C/T polymorphism were examined by the polymerase chain reaction-single base extension （PCR-SBE） technique and DNA sequencing methods in 199 Chinese Guangxi populations. Allele and genotype frequencies of P-selectin rs6131 C/T polymorphisms were analyzed for Guangxi populations, and compared with HapMap- CEU, HapMap-YRI, HapMap-JPT and HapMap-HCB, which come from Human Genome Project group （HapMap） data. Results There is P-selectin gene rs6131 C/T polymorphisms in Guangxi populations. The frequencies of allele and genotype of P-selectin rs6131 C/T polymorphism were not difference between male and female group （P0.05）. But the distribution of allele and genotype frequencies of P-selectin rs6131 C/T polymorphism were significantly difference between HapMap-CEU and HapMap-JPT populations （P0.05）. The P-selectin rs6131 C/T gene polymorphism were not significantly difference between HapMap-YRI and HapMap-HCB （P0.05）. Conclusion There is P-selectin gene rs6131 C/T polymorphisms in Guangxi populations. The distribution of frequencies of P-selectin gene rs6131 C/T polymorphism were significantly difference compared with other ethnic populations, which could play an important role in anthropological research.