Switonski M, Szczerbal I, Nowacka-Woszuk J
Department of Genetics and Animal Breeding, Poznan University of Life Sciences, Poznan, Poland.
J Appl Genet. 2025 Jan 27. doi: 10.1007/s13353-025-00943-x.
Identification of chromosomal abnormalities is an important issue in animal breeding and veterinary medicine. Routine cytogenetic diagnosis of domestic animals began in the 1960s with the aim of identifying carriers of centric fusion between chromosome 1 and 29 in cattle. In the 1970s, chromosome banding techniques were introduced, and in the 1980s, the first cytogenomic techniques, based on the development of locus- and chromosome-specific probes, were used. Since the beginning of the twenty-first century, molecular techniques (such as polymorphism of microsatellite markers, droplet digital PCR, SNP microarrays, and whole genome sequencing) have begun to be widely used in animal breeding. This review is focused on the cytogenomic diagnosis of chromosome abnormalities in cattle, horses, pigs, dogs, and cats. We show that these approaches are very useful in large-population screening studies of the prevalence of aneuploidies (mainly of sex chromosomes) and structural rearrangements (centric fusions and reciprocal translocations).
染色体异常的鉴定是动物育种和兽医学中的一个重要问题。家畜的常规细胞遗传学诊断始于20世纪60年代，目的是鉴定牛1号和29号染色体着丝粒融合的携带者。20世纪70年代引入了染色体显带技术，20世纪80年代，基于位点和染色体特异性探针的发展，首次使用了细胞基因组技术。自21世纪初以来，分子技术（如微卫星标记多态性、数字液滴PCR、SNP微阵列和全基因组测序）已开始在动物育种中广泛应用。本综述聚焦于牛、马、猪、狗和猫染色体异常的细胞基因组诊断。我们表明，这些方法在非整倍体（主要是性染色体）和结构重排（着丝粒融合和相互易位）流行率的大群体筛查研究中非常有用。
