IL-8基因启动子区rs4073A/T和rs2227306C/T的多态性分析  

Genetic polymorphism of rs4073A /T and rs2227306C /T at IL-8 promoter region

作　　者：胡东海[1] 廖品琥[2] 熊滨[3] 覃纲[4] 李军[2] 黄冰[1] 王海彦[1] 仇晓文 黄孔文 

机构地区：[1]广西医科大学附属肿瘤医院麻醉科,南宁530021 [2]右江民族医学院附属医院重症医学科,百色533000 [3]广西壮族自治区人民医院重症医学科,南宁530021 [4]广西壮族自治区民族医院重症医学科,南宁530021

出　　处：《临床与实验病理学杂志》2013年第12期1306-1309,共4页Chinese Journal of Clinical and Experimental Pathology

基　　金：广西自然科学基金重点项目(2011GXNSFD018039);广西科技攻关项目(桂科攻1140003B-93);广西教育厅科研资助(201012MS176);广西医疗卫生重点科研(2010058)

摘　　要：目的观察中国广西人群中白细胞介素-8(interleukin 8,IL-8)基因启动子rs4073A/T和rs2227306C/T的基因型及等位基因的分布频率,并与其它国家和地区的基因多态性数据进行比较。方法采用DNA测序方法和单碱基延伸PCR技术检测199例广西人群的IL-8基因启动子遗传多态性,分析其基因型及等位基因的分布频率,并与人类基因组计划(HapMap)公布的中国北京人、非洲人、日本人和欧洲人的基因多态性数据相比较。结果 IL-8基因启动子区rs4073A/T基因型AA、AT和TT频率分别为20.6%、49.0%和30.4%;等位基因A、T频率分别为45.1%和54.9%;rs2227306C/T基因型CC、CT和TT频率分别为38.7%、50.8%和10.5%;等位基因C、T频率分别为64.1%和35.9%。中国广西人的rs4073A/T和rs2227306C/T基因型及等位基因型分布频率在男女组间相比,差异无统计学意义(P>0.05);与中国北京人及欧洲人相比,差异无统计学意义(P均>0.05),但与日本人和非洲人相比,差异有显著性(P均<0.05)。结论广西人群IL-8基因启动子区的rs4073A/T和rs2227306C/T多态性,在不同地区和种族人群之间的分布有差异。Purpose To study the frequencies of allele and genotype distribution of rs4073A/T and rs2227306C/T at the IL-8 promoter region in a Guangxi population, and to analyze the distributions of polymorphism among different races. Methods The polymerase chain reaction-single base extension （PCR-SBE） technique and DNA sequencing were used to examine the rs4073A/T and rs2227306C/T polymorphism in 199 Guangxi populations. The allele and genotype frequencies of rs4073A/T and rs2227306C/T poly-morphism were analyzed and compared with other four populations （HapMap-CEU, HapMap-YRI, HapMap-PT and HapMap-HCB） which were published by Human GenomeProject Group （ HapMap ）. Results The genotype frequencies of AA, AT and TF of rs4073A/T were 20.6% , 49.0% and 30.4% , with allele frequencies of A and T were 45.1% and 54.9% , respectively. The geno-type frequencies of CC, CT and TF of rs2227306C/T were 38.7% , 50.8% and 10.5% , with allele frequencies of C and T were 64. 1% and 35.9%, respectively. There was no significant difference of the frequencies, the allele and genotype of rs4073A/T and rs2227306C/T polymorphism between male and female group in the Guangxi population （P 〉 0. 05 ）. Compared with HapMap-CEU and HapMap-HCB SNP data, no significant difference was observed in the genotype and allelic frequencies of rs4073A/T and rs2227306C/ T polymorphism （ P both 〉 0. 05 ） , but there were significant difference as compared with HapMap-JPT and HapMap-YRI （ both P 〈 0. 05 ）. Conclusion The distributions of frequencies of rs4073A/T and rs2227306C/T polymorphism at the IL-8 promoter in the Guangxi population are significant difference as compared with other ethnic populations.

关 键 词：IL-8基因 基因多态性 地区 

分 类 号：R394.3[医药卫生—医学遗传学]