Cocostîrc Vlad, Paștiu Anamaria Ioana, Doboși Anca-Alexandra, Lucaci Felix Daniel, Turcu Maria-Carmen, Borzan Mihai Marian, Pusta Dana Liana
Department of Genetics and Hereditary Diseases, Faculty of Veterinary Medicine, University of Agricultural Sciences and Veterinary Medicine Cluj-Napoca, 400372 Cluj-Napoca, Romania.
Department of Animal Breeding and Animal Productions, Faculty of Veterinary Medicine, University of Agricultural Sciences and Veterinary Medicine Cluj-Napoca, 400372 Cluj-Napoca, Romania.
Animals (Basel). 2023 Apr 19;13(8):1403. doi: 10.3390/ani13081403.
Canine degenerative myelopathy (CDM) is a spontaneous neurodegenerative disease. Genetically, CDM is an autosomal recessive disease with incomplete penetrance, most commonly caused by a genetic mutation in exon 2 of gene (c.118G > A). This study aimed to determine the mutant allele frequency associated with CDM in various dog breeds from Romania. Dogs ( = 230) from 26 breeds were included in the study. Genotyping using the PCR-RFLP technique was performed on DNA extracted from oral swabs. The results revealed that 204 dogs were homozygous for the wild-type allele (G/G), 16 were heterozygous (A/G), and 10 were homozygous for the mutant allele (A/A). The mutant allele was identified in Wire Fox Terrier, Romanian Mioritic Shepherd, German Shepherd, Rottweiler, Belgian Shepherd, and Czechoslovakian Wolfdog breeds. The mutant allele frequency (A) within the tested population was 0.0783. The results for Belgian Shepherd, German Shepherd, and Romanian Mioritic Shepherd were in Hardy-Weinberg equilibrium, but a departure was observed for Rottweiler. The current study included a first screening of the Romanian Bucovina Shepherd, Romanian Mioritic Shepherd, and Caucasian Shepherd breeds. Genetic testing for the mutation associated with CDM is important in order to avoid the risk of the emergence of dogs homozygous for the :c118G > A allele.
犬类退行性脊髓病(CDM)是一种自发性神经退行性疾病。从遗传学角度来看,CDM是一种常染色体隐性疾病,具有不完全外显率,最常见的病因是基因第2外显子(c.118G > A)中的基因突变。本研究旨在确定罗马尼亚各种犬种中与CDM相关的突变等位基因频率。研究纳入了来自26个品种的230只犬。使用PCR-RFLP技术对从口腔拭子中提取的DNA进行基因分型。结果显示,204只犬为野生型等位基因纯合子(G/G),16只为杂合子(A/G),10只为突变等位基因突变纯合子(A/A)。在刚毛猎狐梗、罗马尼亚米奥里特牧羊犬、德国牧羊犬、罗威纳犬、比利时牧羊犬和捷克斯洛伐克狼犬品种中鉴定出了突变等位基因。受试群体中的突变等位基因频率(A)为0.0783。比利时牧羊犬、德国牧羊犬和罗马尼亚米奥里特牧羊犬的结果符合哈迪-温伯格平衡,但罗威纳犬出现了偏离。本研究首次对罗马尼亚布科维纳牧羊犬、罗马尼亚米奥里特牧羊犬和高加索牧羊犬品种进行了筛查。为避免出现:c118G > A等位基因纯合犬的风险,对与CDM相关的突变进行基因检测很重要。