摘要拷贝数变异(copy number variation, CNV)是近年来发展起来的和SNP互补的一种重要的基因组遗传变异形式。它不仅与畜禽的疾病及发育异常有关，还与许多体型外貌特征及经济重要性状相关联。联合使用SNP 和CNV这两种遗传标记，将为深入理解畜禽复杂性状的分子机制和遗传基础提供新的思路，并在标记辅助育种中有着广阔的应用前景。全基因组范围内的CNV研究的技术方法主要有比较基因组杂交芯片(CGH)、高密度SNP分型芯片及基于近年来正在兴起的新一代测序技术的全基因组重测序，对于已经检测出的CNV，根据序列特点可以采用基于PCR和杂交的技术方法对其基因型进行判定。2008年以来，利用CGH芯片、高密度SNP芯片和新一代测序等技术对畜禽的基因组CNV开展了一系列研究。本文综述了目前全基因组范围内CNV检测方法及特定CNV的分型方法，并列举了CNV在畜禽中的所取得的一系列研究进展，为从事同类研究的人员提供一定的参考资料。
Abstract：Copy number variation (CNV) is an important source of genetic variation complementary to single nucleotide polymorphism (SNP). It has been shown not only relating with disease susceptibility and developmental abnormality, and also with appearance characteristics and economically important traits. Combined using the SNP and CNV will provide new research ideas for dissecting the molecular mechanism and genetic basement of complex traits of livestock and poultry. Additionally, CNV would have broad application in marker assistant selection in breeding of livestock and poultry. Genome-wide CNV discovery approaches include array comparative genome hybridization (CGH), high dense SNP chips and newly developed genome re-sequence based on high-throughput sequencing technologies. Since 2008, using hybridization- based chip and sequencing-based technologies, a series of studies have been performed to construct CNV maps in every livestock and poultry. In the present article, we summarized the detection measures to identify genome-wide CNV, methods for genotyping the detected CNV, and the considerable advances of CNV in livestock and poultry. It will provide useful information for researchers engaged in the field.
王继英1,郭建凤1,张大龙2,王彦平3,陶海英3,武英1. 拷贝数变异的研究方法及其在畜禽中的研究进展[J]. , 2013, 21(4): 464-474.
2, 2, 2, 2, 2. Research Measures for Copy Number Variation and its Research Progress in Livestock and Poultry. , 2013, 21(4): 464-474.
