Kang Mingue, Ahn Byeongyong, Shin Jaeyeol, Park Chankyu
Department of Stem Cell and Regenerative Biotechnology, Konkuk University, Seoul 05029, Korea.
J Vet Sci. 2025 Jul;26(4):e48. doi: 10.4142/jvs.25047.
Understanding the susceptibility of native Korean dogs to genetic diseases is important for animal welfare and breeding. However, little is known regarding the segregation of genetic variations associated with genetic diseases among native Korean dog breeds, highlighting the need for further research in this area.
A genome-wide analysis was conducted using the available whole genome sequencing (WGS) results of DongGyeongi, Sapsaree, and Jindo dogs to evaluate the presence of disease-associated mutations and develop polymerase chain reaction (PCR)-based typing methods.
Using WGS data from 32 individuals of DongGyeongi, Sapsaree, and Jindo dogs, variant calling was used to identify variants associated with canine genetic diseases in Online Mendelian Inheritance in Animals. Additionally, allele-specific PCR-based typing methods for the identified mutations were developed.
Four different variants were identified: NC_006583.3:g.54192143C>G in the gene associated with the bobtail phenotype, NC_006585.3:g.69456869G>T in associated with urolithiasis, NC_006591.3:g.6048201_6048202insG in associated with abortion, and NC_006607.3:g.48121642G>A in associated with coat color dilution. The mutant allele was present in all breeds (frequency = 0.33), whereas the mutant allele was found only in DongGyeongi (0.18) and Sapsaree breeds (0.20). The and mutant alleles were specific to DongGyeongi (0.20 and 0.18, respectively).
Genome-wide analysis was conducted to identify the causative mutations of genetic diseases in native Korean dogs. The observed frequencies of the identified variants differed among native Korean dog breeds. The typing methods used to detect variant alleles in this study will contribute to improving the genetic robustness of native Korean dog breeds.
了解韩国本土犬对遗传疾病的易感性对于动物福利和育种至关重要。然而，对于韩国本土犬种中与遗传疾病相关的遗传变异的分离情况知之甚少，这凸显了在该领域进行进一步研究的必要性。
利用东京犬、沙皮犬和珍岛犬现有的全基因组测序（WGS）结果进行全基因组分析，以评估疾病相关突变的存在情况，并开发基于聚合酶链反应（PCR）的分型方法。
利用来自32只东京犬、沙皮犬和珍岛犬个体的WGS数据，通过变异检测来识别《动物在线孟德尔遗传》中与犬类遗传疾病相关的变异。此外，还开发了针对已识别突变的基于等位基因特异性PCR的分型方法。
鉴定出四种不同的变异：与短尾表型相关的基因中的NC_006583.3:g.54192143C>G，与尿石症相关的NC_006585.3:g.69456869G>T，与流产相关的NC_006591.3:g.6048201_6048202insG，以及与毛色稀释相关的NC_006607.3:g.48121642G>A。 突变等位基因在所有品种中均存在（频率 = 0.33），而 突变等位基因仅在东京犬（0.18）和沙皮犬品种（0.20）中发现。 和 突变等位基因是东京犬特有的（分别为0.20和0.18）。
进行全基因组分析以确定韩国本土犬遗传疾病的致病突变。在韩国本土犬种中，所观察到的已识别变异的频率有所不同。本研究中用于检测变异等位基因的分型方法将有助于提高韩国本土犬种的遗传稳健性。
