中国广西地区健康人群E-选择素基因rs5359A/G、rs4786G/A多态性分析

Genetic Polymorphism of E-selectin Gene rs5359AG and rs4786GA in Chinese Guangxi Populations

目的:研究E-选择素基因单核苷酸多态性(SNP)rs5359A/G、rs4786G/A等位基因及其基因型在中国广西地区健康人群中的分布频率,并与其他种族和地区间的分布进行比较。方法:应用单碱基延伸PCR技术和DNA测序方法检测199例中国广西人群E-选择素基因rs5359A/G、rs4786G/A的多态性,并与人类基因组计划(Hapmap)公布的欧洲、非洲、日本和中国北京人群的基因型及等位基因的频率进行比较分析。结果:E-选择素基因rs5359A/G、rs4786G/A存在多态性,其基因型及等位基因频率在广西地区男女组间及与非洲、日本、中国北京人群比较无统计学差异(P>0.05),但与欧洲人群比较差异有统计学意义(P<0.05)。结论:中国广西地区健康人群E-选择素基因rs5359A/G、rs4786G/A存在多态性,与欧洲人群比较存在显著性差异,这种差异对于人类学研究可能起到重要作用。

Objective: To study the frequencies of allele and genotype distribution of E-selectin gene rs5359AG and rs4786GA single nucleotide polymorphism (SNP) in Chinese guangxi populations, and to analyze the distributions of E-selectin polymorphisms among different races. Method: The E-selectin gene polymorphisms were examined by the polymerase chain reaction-single base extension (PCR-SBE) technique and DNA sequencing methods in 199 Chinese guangxi populations, frequencies of allele and genotype of E-selectin gene rs5359AG,rs4786GA 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) datas. Results: There were E-selectin gene rs5359AG and rs4786GA polymorphisms in guangxi populations. The frequencies of allele and genotype of E-selectin gene rs5359AG and rs4786GA polymorphisms were not different between male and female in guangxi group and HapMap-YRI,HapMap-JPT and HapMap-HCB (P>0.05). But the frequencies of allele and genotype distribution of E-selectin gene rs5359AG and rs4786GA polymorphisms were significant different compared with HapMap-CEU populations (P<0.05). Conclusion: The frequencies of polymorphism distribution of the E-selectin gene rs5359AG and rs4786GA were significantly different compared with HapMap-CEU populations. It might play an important role for anthropological research.