天津医药

天津医药 ›› 2015, Vol. 43 ›› Issue (8): 848-851.doi: 10.11958/j.issn.0253-9896.2015.08.005

• 细胞与分子生物学 • 上一篇    下一篇

广西壮族人群IL-12 基因的单核苷酸多态性研究

陆潞，谢克恭，韦贵将，王俊利，陆敏安，乔宁宁，卢贤哲，唐毓金   

  1. 广西百色，右江民族医学院附属医院脊柱外科
  • 收稿日期:2014-10-11 修回日期:2015-01-22 出版日期:2015-08-15 发布日期:2015-08-15
  • 通讯作者: 唐毓金 E-mail:tangyujin196709@163.com
  • 作者简介:陆潞（1981），男，硕士在读，主要从事脊柱与骨关节疾病研究
  • 基金资助:
    国家自然科学基金资助项目（81260315）；广西自然科学基金项目（2012GXNSFAA053169）；广西卫生厅医疗卫生重点科研课题项目（重2010059）；广西卫生厅自筹经费科研课题项目（Z2012712）

Single Nucleotide Polymorphisms of IL- 12 gene in Zhuang populations in Guangxi

LU Lu, XIE Kegong, WEI Guijiang, WANG Junli，LU Min’an, QIAO Ningning，LU Xianzhe, TANG Yujin   

  1. Department of Spinal Orthopedic Surgery, First Affiliated Hospital, Youjiang Medical University for Nationalities, Baise Guangxi 533000, China
  • Received:2014-10-11 Revised:2015-01-22 Published:2015-08-15 Online:2015-08-15
  • Contact: TANG Yujin E-mail:tangyujin196709@163.com

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摘要： 目的 分析白细胞介素（IL）-12A 基因单核苷酸多态性（SNP）位点rs568408 和IL -12B 基因SNP 位点 rs3212227 的各基因型和等位基因在广西壮族人群中的分布频率，及不同地区的分布差异。方法 采用单碱基延伸的PCR 技术对165 例广西壮族人群IL-12A rs568408 和IL-12B rs3212227 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、日本、非洲和意大利人群的SNP 分型数据，分析5 个人群rs568408、rs3212227 位点的基因型和等位基因频率差异。结果 在广西壮族人群中存在rs568408 和rs3212227 多态性，2 位点基因型及等位基因频率在男女性别间差异无统计学意义（P > 0.05），IL-12A rs568408 与北京、日本和意大利人群差异无统计学意义（P > 0.05），但与非洲人群存在差异（P < 0.01）；IL-12B rs3212227 与北京和日本人群差异无统计学意义，但与非洲和意大利人群存在差异（P < 0.01）。结论 IL-12A rs568408 和IL-12B rs3212227 存在多态性，2 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。

关键词: 白细胞介素12, 多态性, 单核苷酸, 广西[壮族自治区], 人种群

Abstract: Objective To investigate the frequencies of genotype and allele distribution of IL12A gene single nucleotide polymorphisms rs568408and IL12B gene single nucleotide polymorphisms rs3212227 in Zhuang populations in Guangxi, and to compare the distribution of IL12A and IL12B polymorphisms among different races. Methods The IL12A gene rs568408 and IL12B rs3212227 polymorphisms were detected by SNaPshot SNP genotyping technique in 165 Zhuang populations in Guangxi, frequencies of genotype and allele of IL12A gene rs568408 and IL12B rs3212227 polymorphisms were analyzed in Zhuang populations compared with the other four populations (HapMap-HCB, HapMap-JPT, HapMap-YRI, HapMap-TSI) from HapMap database. Results There were IL12A and IL12B gene polymorphysms in Zhuang populations in Guangxi. The frequencies of allele and genotype distribution of IL12A gene rs568408 polymorphisms were not significantly differenct compared with HapMap-HCB, HapMap-JPT and HapMap-TSI (P>0.05), but were significantly different compared with HapMap-YRI (P<0.01); The frequencies of allele and genotype distribution of IL12B rs3212227 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 IL12A gene rs568408 and IL12B gene rs3212227 between Zhuang populations and other ethnic populations, and this variation might contribute for a variety of clinical manifestation and morbidity of some IL-12 related diseases.