中国广西人白细胞介素-21基因rs2221903 T/C遗传多态性研究

Genetic Polymorphism of IL-21 Gene rs2221903 T/C in Chinese Guangxi Populations

目的:了解白细胞介素-21(IL-21)基因单核苷酸多态性(SNP)各等位基因及基因型在中国广西地区人群中的分布频率,比较其在不同种族间分布的差异。方法:采用单碱基延伸的PCR技术和DNA测序法检测199例中国广西人的IL-21基因rs2221903 T/C多态性,并结合人类基因组计划(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,比较分析广西人与其他种族人群的基因型及等位基因分布频率的差异。结果:广西人IL-21基因型TT、TC和CC频率分别为75.38%、23.62%和1.01%;等位基因T、C频率分别为87.19%和12.81%。其基因型频率在男女组间比较差异无统计学意义(P>0.05)。广西人与欧洲和非洲人群比较,IL-21基因多态性分布频率差异均有统计学意义(P<0.05);而与日本人和中国北京人比较差异无统计学意义(P>0.05)。结论:在中国广西人群中存在IL-21基因多态性,且与其他种族人群比较存在显著性差异,这种差异对于人类学的研究可能起重要的作用。

Objective: To study the frequencies of allele and genotype distribution of interleukin-21 (IL-21) gene single nucleotide polymorphism (SNP) in Chinese guangxi populations, and to analyze the distributions of IL-21 polymorphism among different races. Method: The IL-21 gene rs2221903 T/C polymorphism was 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 IL-21 gene rs2221903 T/C polymorphism were analyzed for guangxi populations compared with other the four populations (HapMap-CEU, HapMap-YRI, HapMap-JPT and HapMap-HCB) from human genome project group (Hapmap) data. Results: IL-21 genotype frequencies of TT,TC and CC were 75.38%, 23.62% and 1.01%, and allele frequencies of T and C were 87.19% and 12.81% in Chinese guangxi populations respectively. The frequencies of genotype of IL-21 gene rs2221903 T/C polymorphism were not significant difference between male and female group (P>0.05). The frequencies of allele and genotype distribution of IL-21 gene rs2221903 T/C polymorphism were significant difference compared with HapMap-CEU and HapMap-YRI populations (P<0.05), the IL-21 gene polymorphisms were not significant difference compared with HapMap-JPT and HapMap-HCB (P>0.05). Conclusion: There is IL-21 gene polymorphism in guangxi populations, the frequencies of polymorphism distribution of IL-21 gene are significantly difference compared with others ethnic populations. It might play an important role for anthropological research.