海南黑山羊SAA3基因多态位点筛查与生物信息学分析  

Screening of polymorphic loci and bioinformatics analysis of the SAA3 gene in Hainan Black goats

作　　者：陈祥英 陈韬羽 高宏岩 陈思 满初日嘎 杜丽 王凤阳 陈巧玲 Chen Xiangying;Chen Taoyu;Gao Hongyan;Chen Si;Man Churiga;Du Li;Wang Fengyang;Chen Qiaoling(College of Tropical Agriculture and Forestry,Hainan University/Hainan Provincial Key Laboratory of Tropical Animal Breeding and Disease Research,Hainan Haikou 570228)

机构地区：[1]海南大学热带农林学院/海南省热带动物繁育与疫病研究重点实验室,海南海口570228

出　　处：《现代畜牧兽医》2025年第3期1-6,共6页Modern Journal of Animal Husbandry and Veterinary Medicine

基　　金：海南省自然科学基金(324RC447);国家现代农业产业技术体系项目(财政部和农业农村部-CARS38);海南省院士创新平台科研专项(No.YSPTZX202013)。

摘　　要：试验旨在探究海南黑山羊SAA3基因的结构特征及其遗传分布情况,为进一步探索该基因的表达调控机制及免疫功能提供参考。试验采集200只海南黑山羊的血液样本,采用Sanger法测序对海南黑山羊SAA3基因的单核苷酸多态性(SNP)位点进行检测,对检测到的SNPs位点进行连锁不平衡分析,并用生物信息学软件对SAA3基因编码蛋白及其启动子区进行分析。结果显示,在该基因启动子区检测到4个SNPs位点,分别为SNP1(g.25808412C>A)、SNP2(g.25808226C>G)、SNP3(g.25808088A>G)和SNP4(g.25807925C>G);4个SNPs位点中仅SNP3位点在该群体中表现为低度多态性且不符合Hardy-Weinberg平衡定律(P<0.05)。单倍型分析结果显示,H1、H2和H3单倍型频率分别为0.712、0.258和0.030,H1(CCAC)为优势单倍型。生物信息学分析显示,SAA3基因编码序列(CDS)区长度为131 bp,蛋白分子量为14.59 kDa,理论等电点(pI)为9.44,蛋白质二级结构包括71.76%α-螺旋、28.24%无规则卷曲。系统进化树分析显示,该基因编码氨基酸序列与反刍动物绵羊、牛的亲缘关系最近。研究表明,海南黑山羊SAA3基因较为保守,其CDS区未检测出突变位点,启动子区存在4个SNPS,其中SNP4可能减少转录因子AP-2α与启动子区结合,进而影响SAA3基因的调控表达。This study aimed to investigate the structural characteristics and genetic distribution of the SAA3 gene in Hainan Black goats,providing a reference for further exploration of its expression regulation mechanisms and immune functions.Blood samples from 200 Hainan Black goats were collected.Sanger sequencing was used to detect single nucleotide polymorphisms(SNPs)in the sequences of SAA3 gene.Linkage disequilibrium analysis was performed on the identified SNPs,and bioinformatics software was employed to analyze the SAA3-encoded protein and its promoter region.Results revealed four SNPs in the promoter region:SNP1(g.25808412C>A),SNP2(g.25808226C>G),SNP3(g.25808088A>G),and SNP4(g.25807925C>G).Among these,only SNP3 exhibited low polymorphism and deviated from the Hardy-Weinberg equilibrium(P<0.05).Haplotype analysis showed that the frequencies of H1,H2,and H3 haplotypes were 0.712,0.258,and 0.030,respectively,with H1(CCAC)being the dominant haplotype.Bioinformatics analysis indicated that the coding sequence(CDS)region of the SAA3 gene spans 131 bp,encoding a protein with a molecular weight of 14.59 kDa and a theoretical isoelectric point(pI)of 9.44.The secondary structure of the protein comprised 71.76%α-helices and 28.24%random coils.Phylogenetic tree analysis demonstrated that the encoded amino acid sequence shares the closest relationship with ruminants sheep and cattle.The study suggests that the SAA3 gene in Hainan Black goats is relatively conserved,with no mutation sites detected in the CDS region.Four SNPs were identified in the promoter region,among which SNP4 may reduce the binding of transcription factor AP-2αto the promoter,thereby influencing the regulatory expression of the SAA3 gene.

关 键 词：海南黑山羊 SAA3基因 SNP位点 生物信息学 

分 类 号：S827[农业科学—畜牧学]