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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(P>0.05)。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(P>0.05),但与非洲人、日本人、意大利人差异具有统计学意义(P<0.05);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(P>0.05),但与非洲人和意大利人比较差异具有统计学意义(P<0.01)。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。
Objective: To analyze the distribution of rs6613A / T and rs4905A / G polymorphisms of EBI3 gene in Guangxi Zhuang nationality. Methods: The polymorphisms of EBI3 rs6613 A / T and EBI3 rs4905A / G in 168 cases of Guangxi Zhuang nationality were detected by single base extension PCR. Compared with the published data of Habitat Human Genome Project (Hap Map) in Beijing, Japan, African and Italian SNP typing data, analysis of five populations rs6613 A / T, rs4905A / G locus genotype and allele frequency differences. Results: The AT genotype of rs6613 A / T of EBI3 gene was the most common in Guangxi Zhuang population, accounting for about 49.4%; the highest frequency of T allele was 52.1%; the AC genotype of rs4905A / G polymorphism The most common, about 48.2%; C allele frequency of the highest, about 50.9%. EBI3 genotype and allele frequency distribution in gender no significant correlation (P> 0.05). There was no significant difference in genotype and allele frequencies of EBV3 rs6613A / T locus between Zhuang nationality and Beijingers in Guangxi Zhuang nationality (P> 0.05), but there was significant difference between African people, Japanese and Italian (P <0.05) ). The genotype and allele frequencies of rs4905A / G in EB-13 gene were not significantly different from those in Beijing and Japanese (P> 0.05), but were significantly different from those in African and Italian (P <0.01). CONCLUSION: The frequencies of genotypes and alleles of rs6613 A / T and EB-13 rs4905A / G polymorphisms in EBI3 gene in Guangxi Zhuang population are different from those in other races and regions, which may be Cause some diseases in different populations incidence and clinical manifestations of differences in one of the reasons.