Keijser S F A, Fieten H, Vos-Loohuis M, Piek C J, Anderson H, Donner J, Scholten I, Nielen M, Hesselink J W, van Steenbeek F G
1Expertise Centre Genetics of Companion Animals, Department of Clinical Sciences of Companion Animals, Faculty of Veterinary Medicine, Utrecht University, Yalelaan 108, 3584 CM Utrecht, The Netherlands.
2Department of Clinical Sciences of Companion Animals, Faculty of Veterinary Medicine, Utrecht University, Yalelaan 108, 3584 CM Utrecht, The Netherlands.
Canine Genet Epidemiol. 2018 Dec 28;5:12. doi: 10.1186/s40575-018-0068-6. eCollection 2018.
Selective breeding in populations with a limited effective population size may result in a loss of genetic diversity, which can cause an increased concentration of specific disease liability genes. The Dutch Shepherd Dog (DSD) in the Netherlands is an example of such a breed with a small effective population.
To evaluate the measurement of genetic diversity and multiplex DNA panel screening for implementation in a breeding strategy for the Dutch Shepherd Dog (DSD) and to investigate the clinical relevance of potentially identified mutations in the multiplex DNA panel screening.
Genome-wide SNP testing showed genetic isolation and reduced genetic diversity within coat variety subgroups of the DSD. Panel screening identified a Von Willebrand's Disease type I mutation. Although decreased Von Willebrand's Factor proteins were significantly lower in DSDs carrying the VWD-I allele compared to the wildtype, clinical follow-up did not show a significant association between the clinical phenotype and VWD-I genotype.
Genetic relationship measurement within a breed population may be a useful tool to enable breeding strategies to conserve genetic diversity. Results from a disease panel screening need to be evaluated for clinical relevance before breed selection restrictions can be considered.
在有效种群规模有限的群体中进行选择性育种可能会导致遗传多样性丧失，这可能会导致特定疾病易感性基因的浓度增加。荷兰的荷兰牧羊犬（DSD）就是这样一个有效种群较小的品种的例子。
评估遗传多样性的测量方法以及多重DNA面板筛查在荷兰牧羊犬（DSD）育种策略中的应用，并研究多重DNA面板筛查中潜在鉴定出的突变的临床相关性。
全基因组SNP检测显示DSD被毛品种亚组内存在遗传隔离且遗传多样性降低。面板筛查鉴定出一种I型血管性血友病突变。尽管与野生型相比，携带VWD-I等位基因的DSD中血管性血友病因子蛋白水平显著降低，但临床随访未显示临床表型与VWD-I基因型之间存在显著关联。
品种群体内的遗传关系测量可能是一种有助于制定育种策略以保护遗传多样性的有用工具。在考虑对品种选择进行限制之前，需要评估疾病面板筛查结果的临床相关性。
