拷贝数变异在畜禽中的研究进展

Research progress of copy number variation in livestock and poultry

拷贝数变异(Copy number variation,CNV)是基因组结构变异(Structural variation,SV)的重要组成部分,主要指大小从1 kb到数Mb的DNA片段拷贝数改变,表现为亚显微水平的缺失和重复。有人先后应用不同的方法构建了畜禽的全基因组CNV图谱,并发现与色素沉积、表型性状和疾病相关的CNVs。为了更清楚地了解CNV这种结构变异,文章对近几年畜禽的CNV研究进行了较为全面的分析与阐述,结果表明:CNV分布有一定的保守性,其覆盖的序列约占基因组的30%,可用于畜禽基因组结构特征研究。

Copy number variation （CNV） is an important component of genomic structural variation （ SV）, mainly refers to the changes in the copy number of the DNA fragments in the size from 1 kb to several Mb, and shows the deletions and duplications at a submicroscopic level. The ditterent methods have been applied to build the CNV map of the whole genome from livestock and poultry in domestic species genomc in succes- sion, and the copy number variations （CNVs） associated with pigmentation, phenotypic traits as well as the diseases have been also found. The article more comprehensively analyzes and elaborates the CNV studies in recent years in order to more dlearly know the structural variation. The results show that the distribution of CNV in livestock and poultry is conservative, and the CNV covered sequence accounts for about 30% of the genome, which can be used to study genomic structural characteristics in livestock and poultry.