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Genotyping Assays for the Canine Degenerative Myelopathy-Associated c.118G>A (p.E40K) Mutation of the <i>SOD1</i> Gene Using Conventional and Real-Time PCR Methods: A High Prevalence in the Pembroke Welsh Corgi Breed in Japan

2013; Japanese Society of Veterinary Science; Volume: 75; Issue: 6 Linguagem: Inglês

10.1292/jvms.12-0451

1347-7439

Hye-Sook Chang, Hiroaki Kamishina, Keijiro Mizukami, Yasuyuki Momoi, Masaaki Katayama, Mohammad Mahbubur Rahman, Mohammad M. Uddin, Akira Yabuki, Moeko Kohyama, Osamu Yamato,

Neurogenetic and Muscular Disorders Research

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.