广西壮族人群IL-12基因的单核苷酸多态性研究

发布时间：2018-03-04 19:50

本文选题：白细胞介素　切入点：多态性　出处：《天津医药》2015年08期 　论文类型：期刊论文

【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(Hap Map)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(P0.05),IL-12A rs568408与北京、日本和意大利人群差异无统计学意义(P0.05),但与非洲人群存在差异(P0.01);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(P0.01)。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。
[Abstract]:Objective to analyze the distribution frequency of the genotypes and alleles of rs568408 and IL-12B SNP rs3212227 in Guangxi Zhuang population. Methods the polymorphisms of IL-12A rs568408 and IL-12B rs3212227 in 165 Zhuang people in Guangxi were detected by single base extension PCR technique, and compared with those of Beijing, Japan, China published by the International Human Genome Project. SNP typing data from African and Italian populations, The genotype and allelic frequency of rs568408 / rs3212227 locus were analyzed. Results there was no significant difference in genotype and allele frequency of rs568408 and rs3212227 polymorphism locus 2 between male and female in Guangxi Zhuang population, and there was no significant difference between male and female in IL-12A rs568408 between male and female. There was no significant difference between Japanese and Italian population (P 0.05), but there was no significant difference in IL-12B rs3212227 between Japanese and African population compared with that in Beijing and Japan. Conclusion IL-12A rs568408 and IL-12B rs3212227 are polymorphic loci genotype and allele in Guangxi Zhuang population, compared with other ethnic groups and regions, there are differences in the distribution frequency of genotype and allele between Guangxi Zhuang and other ethnic groups and regions. This difference may be one of the reasons for the differences in the incidence and clinical manifestations of some diseases in different populations.
【作者单位】：右江民族医学院附属医院脊柱外科;
【基金】：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)
【分类号】：R394

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