Donaldson Brendan, Villagomez Daniel A F, King W Allan
Department of Biomedical Sciences, University of Guelph, Guelph, ON N1G 2W1, Canada.
Departamento de Produccion Animal, Universidad de Guadalajara, Zapopan 44100, Mexico.
Animals (Basel). 2021 Apr 27;11(5):1257. doi: 10.3390/ani11051257.
The chromosomes of the domestic pig () are known to be prone to reciprocal chromosome translocations and other balanced chromosome rearrangements with concomitant fertility impairment of carriers. In response to the remarkable prevalence of chromosome rearrangements in swine herds, clinical cytogenetics laboratories have been established in several countries in order to screen young boars for chromosome rearrangements prior to service. At present, clinical cytogenetics laboratories typically apply classical cytogenetics techniques such as giemsa-trypsin (GTG)-banding to produce high-quality karyotypes and reveal large-scale chromosome ectopic exchanges. Further refinements to clinical cytogenetics practices have led to the implementation of molecular cytogenetics techniques such as fluorescent in-situ hybridization (FISH), allowing for rearrangements to be visualized and breakpoints refined using fluorescently labelled painting probes. The next-generation of clinical cytogenetics include the implementation of DNA microarrays, and next-generation sequencing (NGS) technologies such as DNA sequencing to better explore tentative genome architecture changes. The implementation of these cytogenomics techniques allow the genomes of rearrangement carriers to be deciphered at the highest resolution, allowing rearrangements to be detected; breakpoints to be delineated; and, most importantly, potential gene implications of those chromosome rearrangements to be interrogated. Clinical cytogenetics has become an integral tool in the livestock industry, identifying rearrangements and allowing breeders to make informed breeding decisions.
家猪（ ）的染色体已知容易发生相互染色体易位和其他平衡染色体重排，同时携带者的生育能力会受到损害。鉴于猪群中染色体重排的显著普遍性，几个国家已经建立了临床细胞遗传学实验室，以便在公猪配种前筛查其染色体重排情况。目前，临床细胞遗传学实验室通常应用经典细胞遗传学技术，如吉姆萨 - 胰蛋白酶（GTG）显带，以产生高质量的核型并揭示大规模染色体异位交换。临床细胞遗传学实践的进一步改进导致了分子细胞遗传学技术的应用，如荧光原位杂交（FISH），使得重排能够可视化，并使用荧光标记的涂染探针细化断点。下一代临床细胞遗传学包括实施DNA微阵列以及DNA测序等下一代测序（NGS）技术，以更好地探索暂定的基因组结构变化。这些细胞基因组学技术的实施能够以最高分辨率解读重排携带者的基因组，从而检测到重排、划定断点，最重要的是，探究那些染色体重排的潜在基因影响。临床细胞遗传学已成为畜牧业中不可或缺的工具，可识别重排情况并让育种者做出明智的育种决策。
