猪基因组结构变异研究进展

结构变异（structural variation，SV）广泛分布在基因组中，并主要以缺失、插入、重复、倒位和易位的形式出现。SV可以通过不同的机制直接或间接影响基因剂量，从而导致畜禽的表型变异，甚至引起疾病。随着分子生物学的发展和新基因组技术的进步，SV在猪基因组的研究越来越多，主要包括繁殖性状、肉质性状、生长性状、毛色、疾病等。本文参考了国内外相关报道，对SV的定义、分类、形成机制、检测方法以及在猪基因组的研究进展进行综述，并对目前SV研究存在的问题提出了建议以及未来的研究趋势进行了展望。

Advances of Structural Variation in Pig Genome

Structural variation (SV) is widely distributed in the genome and mainly occurs in the form of deletion, insertion, duplication, inversion and translocation. SV can affect the gene dosage directly or indirectly through different mechanisms, thereby causing phenotypic variation and even disease in livestock and poultry. With the development of molecular biology and the advancement of new genomic technologies, SV has been increasingly studied in the pig genome, including reproductive traits, meat quality traits, growth traits, coat color, diseases, etc. In this paper, the definition, classification, formation mechanism, detection method and research status of SV for pig genomes were reviewed based on relevant research reports from home and abroad. The problems existing in the SV research were suggested and the future research trends were prospected.