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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 detect the polymorphism of β gene of interleukin-1 (IL-1) in Chinese and to predict the effect of single nucleotide polymorphisms (SNPs) on the function of IL-1β. Methods The genomes of 27 individuals from 10 ethnic groups in China were used as samples. The 5 ’region, coding region, partial intron region and 3’ region of IL-1β gene were detected by direct sequencing. To determine the location and type of IL-1βgene polymorphism in Chinese population, bioinformatics methods were used to predict the function of 5 ’SNPs. Results A total of 6 SNPs were found in the 4610bp fragment, including 3 in the 5 ’region and 3 intron regions. Among them, -511T / C and -31C / TSNP in the 5’ region have been reported both at home and abroad, -1470G / CSNP No relevant reports. Bioinformatics analysis showed that none of the three SNPs in the 5 ’region was in the repeat region of region 5, and all three sites were nuclear factor-related regions involved in the transcription of IL-1β. Conclusion Three SNPs in IL-1β regulatory region may affect the expression of IL-1β, which needs further study.