| 胡仁统 王俊利 韦叶生 陆潞 韦贵将 黄可 廖品琥△ 唐毓金△.广西壮族人群EBI3 基因rs6613A/T, rs4905A/G多态性分布特点[J].现代生物医学进展英文版,2016,16(22):4228-4232. |
| 广西壮族人群EBI3 基因rs6613A/T, rs4905A/G多态性分布特点 |
| The Distribution Characteristics of IL-27gene rs17855750G/T, rs40837A/GPolymorphismof Zhuang Populations in Guangxi |
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| DOI： |
| 中文关键词: EB 病毒诱导基因3 多态性 分布特点 广西壮族人群 种族 |
| 英文关键词: Epstein-Barr virus induced gene 3 Polymorphism Distribution characteristics Zhuang populations of Guangxi Race |
| 基金项目:国家自然科学基金项目（81260315，81541136）；广西自然科学基金项目（2012GXNSFAA053169）；
广西卫生厅自筹经费科研课题项目（Z2014520）；百色市科技攻关项目（20160610） |
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| 中文摘要: |
| 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(HapMap)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。 |
| 英文摘要: |
| 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. |
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