白细胞介素1β基因单核苷酸多态性分析  

Analysis of single nucleotide polymorphism of IL-1β gene

作　　者：文爱清[1] 冯凯[2] 王军[3] 朱佩芳[1] 王正国[1] 蒋建新[1] 

机构地区：[1]第三军医大学附属大坪医院野战外科研究所 [2]解放军第三0六医院中心实验室 [3]第三军医大学附属大坪医院消化科,重庆400042

出　　处：《中华创伤杂志》2005年第12期933-937,共5页Chinese Journal of Trauma

基　　金：国家重点基础研究发展规划资助项目(G199054200);国家高技术研究发展计划资助项目(2001AA224011);国家杰出青年科学基金资助项目(30325040)

摘　　要：目的检测中国人白细胞介素1(interleukin-1,IL-1)β基因多态性,并初步预测调控区单核苷酸多态性(single nucleotide polymorphisms,SNPs)对IL-1β功能的影响。方法对来自中国人群有代表性的10个民族27名个体的基因组DNA作为样本,采用直接测序的方法检测IL-1β基因的5’区、编码区、部分内含子区和3’区序列,以确定中国人群中IL-1β基因多态性的位置和类型,用生物信息学方法对5’区SNPs的功能进行初步预测。结果在4610bp的测序片段中,共发现了6个SNPs,包括5’区3个,内含子区3个,其中5’区的-511T/C、-31C/TSNP国内外已有报道,而-1470G/CSNP未见相关报道。生物信息学分析其中5’区的3个SNP均不在5区的重复区,且3个位点都是与IL-1β转录有关的核因子结合的区域。结论IL-1β调控区3个SNPs可能对IL-1β表达产生影响,有待进一步深入研究。Objective To investigate the polymorphism of human interleukin-1β （IL-1β） gene in Chinese population and predict the effect of the single nucleotide polymorphisms （SNPs） in the regulatory region on the function of IL-1β. Methods Twenty-seven DNA samples from ten nationalities of Chinese population were used to directly sequence 5＇ flank region, exons, parts of the introns, as well as 3＇ flank region of IL-1β gene so as to identify the location and sorts of SNPs in Chinese population. The function of SNPs in the regulatory region was analyzed by bioinformatics method. Results Six SNPs including three in the regulatory region and three in the intron region were identified in the 4 610 bp region. The -511T/C and -31C/T SNPs in the 5 ＇ flank region had been reported, while -1 470G/C SNPs remained unknown. Meanwhile, bioinformetrics analysis showed that three SNPs in the 5＇ flank region existed beyond the repeated region but in the nuclear factor-binding region relating to transcription of IL-1β. Conclusion Three SNPs in the regulatory region of IL-1β maybe get effect on transcription and expression of IL-1β, which needs further study.

关 键 词：白细胞介素1Β 转录 单核甘酸多态性 

分 类 号：R394[医药卫生—医学遗传学] R541.4[医药卫生—基础医学]