【摘要】 为找出可能的性状相关遗传标记,本研究利用猪SNP60芯片对150头荣昌猪杂交群体基因组拷贝数变异区域(CNV regions,CNVRs)进行检测。结果,发现5个CNVRs,其中缺失CNVRs 3个(CNVRs 2,4,5),重复CNVRs 2个(CNVRs 1,3),分别位于1、7、8、13、14号染色体上。其中CNVR1和CNVR5为新发现的CNVRs,CNVR2和CNVR3为已有报道但还未验证过的区域。采用qPCR方法对CNVRs进行拷贝数变异验证,发现CNVR2、CNVR3和CNVR5在多个猪种中都具有丰富多态性;而CNVR4为芯片假阳性结果。在qPCR验证的3个CNVRs中有46个蛋白编码基因,这些基因主要富集在嗅觉受体活性、乙醇代谢、神经系统发育以及脂肪酸代谢通路中。本研究结果为解析品种间表型变异的遗传基础提供了新的遗传变异素材。更多还原

【Abstract】 The aim of this study was to detect CNV regions(CNVRs)from 150Rongchang pig hybridization population using the Porcine SNP60BeadChip.In this study,5CNVRs(CNV regions) were identified across five autosomal chromosomes(chromosomes 1,7,8,13,14)and the predicted status for the CNVRs was 3for deletion,2for duplication.Among these 5CNVRs,CNVR5and CNVR1were the novel found states,and CNVR2and CNVR3were reported by others but not had been validated.The CNVRs were validated by real time quantitative PCR.The results showed that CNVR2,CNVR3,CNVR5had extensive polymorphism in different pig breeds.CNVR4was the false positive states.Gene Ontology(GO)and Kyoto Encyclopedia of Genes and Genomes(KEGG)pathway analysis revealed that 46protein-coding genes in verifying CNVRs possessed a great variety of molecular functions,such as olfactory receptor activity,ethanol metabolic process, neurological system development and fatty acid metabolism pathway.The result provide genetic variation materials for analyzing the genetic base of phenotypic variation between pig breeds.更多还原