广西人群中白介素-33基因rsl891385A/C、rs10975519C/T多态性的分布特点  

Distribution characteristics of rs1891385A/C and rs10975519C/T polymorphisms of interleukin-33 gene in Guangxi population

作　　者：郭静[1] 向阳[2] 黄华佗 彭友帆 韦叶生[2] 蓝艳[1] 

机构地区：[1]右江民族医学院附属医院皮肤科,广西百色533000 [2]右江民族医学院附属医院检验科,广西百色533000

出　　处：《南方医科大学学报》2016年第7期964-968,共5页Journal of Southern Medical University

基　　金：国家自然科学基金(81260234;81560552);广西研究生教育创新计划项目(YCSZ2015223);右江民族医学院校级课题(yy2015zd001)~~

摘　　要：目的研究探讨IL-33基因rs1891385A/C、rs10975519C/T两位点的多态性在广西壮、汉族人群中的分布特点。分析各基因型及等位基因的分布频率在广西人群中种族、性别间的差异。方法采用单碱基延伸法(PCR-SEB)及DNA测序对283例受试者的IL-33基因rs1891385A/C、rs10975519C/T位点进行多态性分析。用统计学方法分析其分布频率及组间差异。结果rs1891385A/C存在AA、AC、CC3种基因型,分布频率分别为64.3%、32.5%、3.2%。其各基因型及等位基因频率在广西人群中壮、汉,男、女性别之间无显著差异(P均>0.05)。其基因型与等位基因频率与人类基因组计划公布的欧洲人、非洲黑人之间均有显著差异(P<0.01)。rs10975519C/T存在CC、CT、TT 3种基因型,分布频率分别为34.3%、53.0%、12.7%。其各基因型及基因频率在广西地区人群中壮、汉,男、女之间也无统计医学意义(P>0.05)。其基因型仅与欧洲人、日本人差异有统计学意义(P<0.01)。其等位基因频率仅与欧洲人群相比差异有统计学意义(P<0.01)。结论 IL-33基因rs1891385A/C、rs10975519C/T的基因多态性存在着不同程度的种族和地区差异。Objective To explore the race-and gender-specific distribution characteristics of rs1891385A/C and rs10975519C/T polymorphism of interleukin-33（IL-33） gene in Zhuang and Han populations.Methods The polymorphisms of rs1891385A/C and rs10975519C/T of IL-33 gene in 283 subjects from Guangxi Zhuang Autonomous Region were analyzed with single base extension（PCR-SEB） and DNA sequencing to analyze the differences in their distribution frequencies between genders and between Zhuang and Han populations.Results Three genotypes（AA,AC and CC） were found in rs1891385A/C with frequencies of 64.3%,32.5% and 3.2%,respectively.The genotype and allele frequencies of rs1891385A/C in this Guangxi population showed no significant difference between Zhuang and Han subpopulations and between genders（P〈0.05）,but differed significantly from those in European and African black populations（P〈0.01）.Three genotypes（CC,CT and TT） were identified in rs10975519C/T with frequencies of 34.3%,53.0%,and 12.7%,respectively,showing no significant ethnic or genderspecific differences in this population（P〈0.05）.The genotype frequency of rs10975519C/T in this population differed significantly from those in the European and Japanese populations（P〈0.01）,but the allele frequencies only showed significant differences from those in the European population（P〈0.01）.Conclusion rs1891385A/C and rs10975519C/T polymorphisms of IL-33 gene show a race-specific difference.

关 键 词：IL-33 基因多态性 广西人群 

分 类 号：R394[医药卫生—医学遗传学]