贵州本地山羊JAK2基因5'调控区SNP生物信息学分析

Bioinformatics Analysis on the SNP of 5' Flanking Region of JAK2 Gene in Guizhou Local Goat

本实验旨在从贵州本地山羊JAK2基因启动子区查找SNP,并分析其在启动子区中的作用。以贵州当地优良品种贵州白山羊、贵州黑山羊及黔北麻羊3种山羊构建不同DNA池,双向测序筛选SNP位点,降低测序误差。结果表明:JAK2基因5'调控区存在5个SNPs位点,分别为G-278C、G-275C、C-265G、A-193G和G-43T;各生物信息学在线软件预测获得JAK2基因核心启动子范围及CpG岛位置,单核苷酸多态性位点导致附近大量转录因子新位点产生和原来结合位点消失,但并不改变CpG岛大小。结果提示,JAK2基因5'调控区存在5个对启动子功能元件有较大影响的SNP位点,该结果为进一步了解JAK2基因启动子区功能元件奠定基础。

To screen the SNP sites in the function elements of promoter. Three goat promoter region of JAK2 gene in goat and analyze the role of SNPs on breeds （Guizhou White Goat, Guizhou Black Goat and Qianbei Ma Goat） were selected to construct DNA pools, to reduce the error SNP sites were screened by sequences subsequently. The result showed that 5 single nucleotide polymorphisms （SNPs） G-275C, C-265G, A-193G and G-43T respectively were found in the 5＇ flanking region of bioinformatics tools were used to predict the core region of the promoter and CpG island. It novel transcription factors binding sites emerged while a before disappearing based on the SNPs found in this study, conducting bidirectional which included G-278C, JAK2 gene. Furthermore, demonstrated that various large amount of transcription factors binding sites existed but the range of CpG island was not affected dramaticlly by using various softwares. The conclusion was five SNPs existed in the 5＇ flanking region of JAK2 gene that had important effects on promoter elements. This study can provide an experimental foundation for the identification of function of JAK2 promoter.