中国人群IL-1R1基因变异及其对跨膜区功能影响的预测

An investigation of polymorphism in IL-1R1 gene in Chinese population and the functional prediction of a variation in the transmembrane region of IL-1R1

目的 检测中国人白细胞介素 1Ⅰ型受体基因 (interleukin 1receptortypeⅠ ,IL 1)调控区和编码区的单核苷酸多态性 (singlenucleotidepolymorphisms ,SNPs) ,并初步探讨其可能对中国人IL 1R1的功能影响。方法 采用直接测序的方法检测基因的 5′区、编码区、部分内含子区和 3′区 ,以确定中国人群中IL 1R1基因SNP的位置和类型 ,用生物信息学方法对编码区SNP的功能进行了预测。结果 在 964 3bp的测序长度中 ,共发现了 16个SNP ,包括 5′区 4个 ,内含子区 4个 ,编码区 1个 ,3′非编码区 7个。其中一个SNP能引起IL 1R1跨膜区氨基酸的替代 ,生物信息学分析显示它能够引起跨膜区结构的改变。结论IL 1R1基因变异可能对IL 1R1的功能产生影响。

Objective To identify the single nucleotide polymorphisms (SNPs) in the regulatory and coding regions of human interleukin-1 receptor type Ⅰ (IL-1R1) gene and to assess their potential effect on the function of IL-1R1. Methods The 5′ flank region ,exons, parts of the introns, as well as 3′ flank region of IL-1R1 gene were sequenced to identify and characterize the SNPs in Chinese population. Effects of the SNP on the structure and function of IL-1R1 were analyzed by computational methods. Results Sixteen SNPs were identified through a 9643 bp sequencing of IL-1R1 gene. Among them, four were in 5′ flank region, four in intron region, one in coding region, and seven in 3′ untranslated region. A novel SNP in Chinese population was involved in a structural change in IL-1R1, which may influence the signal transduction of IL-1R1. Conclusion The SNP in the IL-1R1 gene might influence its function as an important receptor of IL-1 family.