title: Genotyping assays for the canine degenerative myelopathy-associated c.118G>A (p.E40K) mutation of the SOD1 gene using conventional and real-time PCR methods: a high prevalence in the Pembroke Welsh Corgi breed in Japan.
abstract: Canine degenerative myelopathy is an adult-onset, progressive neurodegenerative disease that occurs in multiple dog breeds, particularly Pembroke Welsh Corgis. Recently, a degenerative myelopathy-associated mutation of the canine SOD1 gene was identified as c.118G>A (p.E40K). In the present study, genotyping assays using conventional and real-time PCR methods were developed, and a preliminary genotyping survey was performed on 122 randomly selected Pembroke Welsh Corgis without any degenerative myelopathy-related clinical signs to determine the current allele frequency in Japan. Both of the assays provided clear-cut genotyping. The survey demonstrated the frequencies of the G/G wild-type, G/A heterozygote and A/A homozygote to be 9.0, 42.6 and 48.4%, respectively, indicating that the prevalence of the mutant A allele (69.7%) in Pembroke Welsh Corgis is extremely high in Japan.
authors: Laboratory of Clinical Pathology, Department of Veterinary Medicine, Joint Faculty of Veterinary Medicine, Kagoshima University, 1-21-24 Kohrimoto, Kagoshima 890-0065, Japan.
authors: Hye-Sook
authors: HS
authors: Chang
authors: Hiroaki
authors: H
authors: Kamishina
authors: Keijiro
authors: K
authors: Mizukami
authors: Yasuyuki
authors: Y
authors: Momoi
authors: Masaaki
authors: M
authors: Katayama
authors: Mohammad Mahbubur
authors: MM
authors: Rahman
authors: Mohammad Mejbah
authors: MM
authors: Uddin
authors: Akira
authors: A
authors: Yabuki
authors: Moeko
authors: M
authors: Kohyama
authors: Osamu
authors: O
authors: Yamato
mesh_terms: D000818:Animals; D004285:Dogs; D015971:Gene Expression Regulation, Enzymologic / Q000502:physiology; D005838:Genotype; D020271:Heredodegenerative Disorders, Nervous System / Q000175:diagnosis / Q000235:genetics / Q000662:veterinary*; D007564:Japan / Q000453:epidemiology; D009154:Mutation; D015995:Prevalence; D060888:Real-Time Polymerase Chain Reaction / Q000379:methods / Q000662:veterinary*; D013482:Superoxide Dismutase / Q000235:genetics / Q000378:metabolism*; D000072105:Superoxide Dismutase-1
chemical_list: D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1