山羊腺苷单磷酸脱氨酶1基因启动子区单核苷酸多态性研究

Study on the SNPs of AMPD1 Gene Promoter Region in Goat

为筛选腺苷单磷酸脱氨酶1(adenosine monophosphate deaminase 1,AMPD1)基因启动子区单核苷酸多态性(SNP)及研究其对启动子功能元件的影响,试验选择小香羊、黔北麻羊、努比山羊构建不同DNA池,直接测序结合BLAST筛选SNP位点。结果表明,AMPD1基因启动子区存在5个SNPs位点,分别为:T-614A、G-326A、G-309A、T-287C和T-165C。生物信息学软件预测得到AMPD1基因核心启动子区和转录因子结合位点,SNPs位点导致9个转录因子结合位点消失,而产生7个新的转录因子结合位点。AMPD1基因RNA二级结构在突变后显著改变,但未检测到CpG岛区域。

The assay was aimed to screen the polymorphisms of AMPD1 gene promoter and analyze the effect of SNPs on function elements of promoter. Three goat breeds （Small-xiang goat, Qianbei ma goat, Nubian goat） were selected to con- struct DNA pools, SNPs sites were screened by direct sequencing subsequently and analyzed by BLAST. The results showed that 5 single nucleotide polymorphisms （SNPs） were found in the promoter region which included T-614A, G-326A, G-309A, T-287C and T-165C. Furthermore, bioinformatics tools were used to predict the core region of the promoter and identify vari- ous transcription factors binding sites. It demonstrated that 7 new transcription factors binding sites emerged while 9 previous transcription factors binding sites disappeared based on the SNPs found in this study, the remarkable change of secondary structure of RNA were also detected but the range of CpG islands were not predicted by the analysis of various softwares.