摘要: 拷贝数变异(Copy number variations, CNVs)主要指大于1 kb以上的DNA片段的缺失、插入、重复等。CNVs广泛存在于人类和其他哺乳动物的基因组中。文章主要介绍了CNVs对人类疾病的影响及其检测技术, 并对CNVs在动物抗病育种中的应用前景进行了展望。由于拷贝数变异对抗病性和易感性的影响至关重要, 因此采用生物技术手段有望将其运用于家畜标记辅助选择、QTL精细定位以及动物优良抗病品种培育当中。

Abstract: Copy number variations (CNVs) refer to the deletion, insertion, and duplication of genes over 1 kb in length. CNVs were widely found in human and other mammalian genomes. Here, we mainly reviewed the impacts of CNVs on the human diseases, and introduced the general detecting methods for CNVs. We also discussed the potential relationship be-tween CNVs and disease-resistant breeding of animals. Because of the significant effects of CNVs on the resistance and susceptibility of disease, CNVs can be used in the marker-assisted selection, QTL fine mapping, and disease-resistant breeding of livestocks by means of biotechnologies.