广西壮族人群EBI3 基因rs6613A/T, rs4905A/G多态性分布特点

目的:分析广西壮族人群EBI3基因rs6613A/T、rs4905A/G多态性分布特点。方法:采用单碱基延伸的PCR技术对168例广西壮族人群EBI3 rs6613 A/T和EBI3 rs4905A/G进行多态性检测,对比国际人类基因组计划(Hap Map)公布的中国北京人、日本人、非洲人和意大利人的SNP分型数据,分析5个人群rs6613 A/T、rs4905A/G位点的基因型和等位基因频率差异。结果:在广西壮族人群中,EBI3基因rs6613 A/T位点AT基因型最常见,约为49.4%;T等位基因频率最高,约为52.1%;rs4905A/G多态性位点AC基因型最常见,约为48.2%;C等位基因频率最高,约为50.9%。EBI3基因型及等位基因频率分布于性别无显著相关性(P0.05)。广西壮族人群EBI3基因rs6613A/T位点基因型和等位基因频率与北京人差异无统计学意义(P0.05),但与非洲人、日本人、意大利人差异具有统计学意义(P0.05);EB-13基因rs4905A/G位点基因型和等位基因频率与北京人和日本人差异无统计学意义(P0.05),但与非洲人和意大利人比较差异具有统计学意义(P0.01)。结论:EBI3基因rs6613 A/T和EB-13 rs4905A/G多态性位点基因型和等位基因在广西壮族人群中的分布频率与其他种族和地区人群相比存在差异,这种差异可能是导致某些疾病在不同人群发病率和临床表现存在差异的原因之一。

The Distribution Characteristics of IL-27gene rs17855750G/T, rs40837A/G Polymorphismof Zhuang Populations in Guangxi

Objective:To investigate the distribution characteristics of EBI3gene rs6613A/T, rs4905A/G polymorphismof Zhuang populations in Guangxi.Methods:The EBI3 gene rs6613A/Tand rs4905 A/G polymorphisms were detected by SNaPshot SNP genotyping technique of 168 Zhuang populations in Guangxi, frequencies of genotype and allele of EBI3 gene rs6613A/T and rs5905 A/G polymorphisms were analyzed in Zhuang populations compared with the other four populations (HapMap-HCB, HapMap-JPT, HapMap-YRI, HapMap-TSI) from HapMap database.Results:The most common genotype and allele of osteopontin gene rs6613A/T polymorphism were AT (49.4 %) andT (52.1 %) of Zhuang populations in Guangxi, and The most common genotype and allele of osteopontin gene rs4905 A/G polymorphismwere AC (48.2 %) and C (50.9 %). There were no significant differences in the genotype and allele frequencies of EBI3 gene rs6613 A/T and rs4905 A/G polymorphism in Zhuang populations of Guangxi (P>0.05). The frequencies of allele and genotype distribution of IEBI3 gene rs6613A/T polymorphisms were not significantly differenct compared with HapMap-HCB (P>0.05), but were significantly different compared with HapMap-YRI, HapMap-JPT and HapMp-TSI (P<0.05); The frequencies of allele and genotype distribution of EBI3 rs4905A/G polymorphisms were not significantly differenct compared with HapMap-HCB and HapMap-JPT (P>0.05), but were significantly different compared with HapMap-YRI and HapMap-TSI (P<0.01).Conclusion:There are significant differences in the frequencies of allele and genotype distribution of EBI3 gene rs6613A/T and rs4905 A/G between Zhuang populations and other ethnic populations, and this variation might contribute for a variety of clinical manifestation and morbidity of some EBI3 related diseases.