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Allele frequency of hereditary equine regional dermal asthenia in American Quarter horses in Brazil determined by quantitative real-time PCR with high resolution melting analysis
Authors:Peres R. Badial  José P. Oliveira-Filho  Nena J. Winand  Alexandre S. Borges
Affiliation:1. School of Veterinary Medicine and Animal Science, Universidade Estadual Paulista, Department of Veterinary Clinical Science, Botucatu, São Paulo, Brazil;2. College of Veterinary Medicine, Cornell University, Department of Molecular Medicine, Ithaca, NY, USA;1. Department of Veterinary Science and Public Health, University of Milan, Via Celoria 10, 20133 Milan, Italy;2. Veterinary Laboratory, Poggio dei Pini, 09012 Capoterra, Cagliari, Italy;3. Clinical Pathology Unit, Central Laboratory, Veterinary Teaching Hospital, University of Milan, Via dell’Università 6, 26900 Lodi, Italy;1. Helsinki University, Faculty of Veterinary Medicine, Department of Basic Veterinary Medicine, P.O. Box 66, 00014 Helsinki, Finland;2. ORTON Orthopaedic Hospital of ORTON Foundation, P.O. Box 29, 00281 Helsinki, Finland;3. Helsinki University Central Hospital and University of Helsinki, Department of Medicine, Biomedicum 1, P.O. Box 700, Helsinki, Finland;4. Institute of Fundamental Technological Research, Polish Academy of Sciences, Pawinskiego 5B, 02-106 Warsaw, Poland;5. COXA Hospital for Joint Replacement, P.O. Box 652, 33101 Tampere, Finland;1. Clinic for Ruminants, Vetsuisse-Faculty, University of Bern, Switzerland;2. Veterinary Public Health Institute, Vetsuisse-Faculty, University of Bern, Switzerland;3. Institute of Agricultural Sciences, Swiss Federal Technical School of Zürich, Switzerland;1. Normandie Université, UNICAEN, SF 4206 ICORE, Frank Duncombe Laboratory, 1 Route de Rosel, 14053 Caen cedex 4, France;2. Merial S.A.S., 29 Avenue Tony Garnier, 69007 Lyon, France;3. Department of Physiology, Faculty of Veterinary Medicine, University of Liège, 20 Boulevard de Colonster, Bat. B42, 4000 Liège, Belgium;4. Normandie Université, UNICAEN, EA 4655 – U2RM, 14032 Caen, France
Abstract:Hereditary equine regional dermal asthenia (HERDA) is a genetic disorder that occurs in the American Quarter horse (AQH) and is caused by a c.115G>A missense mutation in the peptidylprolyl isomerase B (PPIB) gene. Using a quantitative real-time PCR high resolution melting analysis genotyping assay for the PPIB mutation, the estimated HERDA allele and carrier frequencies in a sample of Brazilian AQHs were 2.9% and 5.8%, respectively.
Keywords:Hereditary equine regional dermal asthenia  Cyclophilin B  Genotyping  Quantitative real-time PCR  High resolution melting analysis
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