畜禽基因组拷贝数变异的研究进展

摘要

Copy number variation(CNV)refers to the insertion,deletion,duplication,and complex genomic rearrangements of DNA fragments over 1kb in length and is proposed as a driving force for genome evolution and phenotypic variation.Such variation has been first discovered in human genome,and then in rats,pigs,cows and other mammals.In this review,we elaborate two forms of biological genetic variation CNV and SNP,analyze the CNV formation mechanism and detection method,and focus on the advance of copy number variation in livestock and poultry.Here,the future research and existing problems in CNV are also analyzed and prospected.%拷贝数变异（Copy number variation,CNV）是一种重要的基因组结构变异，主要指从几kb到数个Mb范围内DNA的多态，包括片段插入、缺失、重复等，它是研究基因组进化和表型差异的重要因素。CNV最早在人类基因组上发现，近几年，在鼠、猪、牛等动物基因组上的研究也取得了明显成效。文章阐述了生物遗传变异的2种方式CNV和单核苷酸多态性，对CNV的形成机制和检测方法进行了分析，重点介绍了畜禽基因组CNV的研究现状，并就CNV未来的研究重点和需要解决的问题进行了展望。