title: 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.
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.
authors.affiliation: School of Veterinary Medicine and Animal Science, Universidade Estadual Paulista, Department of Veterinary Clinical Science, Botucatu, São Paulo, Brazil.
authors.forename: Peres R
authors.initials: PR
authors.lastname: Badial
authors.affiliation: School of Veterinary Medicine and Animal Science, Universidade Estadual Paulista, Department of Veterinary Clinical Science, Botucatu, São Paulo, Brazil.
authors.forename: José P
authors.initials: JP
authors.lastname: Oliveira-Filho
authors.affiliation: College of Veterinary Medicine, Cornell University, Department of Molecular Medicine, Ithaca, NY, USA.
authors.forename: Nena J
authors.initials: NJ
authors.lastname: Winand
authors.affiliation: School of Veterinary Medicine and Animal Science, Universidade Estadual Paulista, Department of Veterinary Clinical Science, Botucatu, São Paulo, Brazil. Electronic address: asborges@fmvz.unesp.br.
authors.forename: Alexandre S
authors.initials: AS
authors.lastname: Borges
mesh_terms: D000818:Animals; D001247:Asthenia / Q000235:genetics / Q000662:veterinary*; D001938:Brazil; D021983:Cyclophilins / Q000235:genetics; D005787:Gene Frequency; D060005:Genotyping Techniques / Q000662:veterinary; D006734:Horse Diseases / Q000235:genetics*; D006736:Horses; D020125:Mutation, Missense; D060888:Real-Time Polymerase Chain Reaction / Q000662:veterinary; D012873:Skin Diseases, Genetic / Q000201:enzymology / Q000235:genetics / Q000662:veterinary*
chemical_list: C081786:cyclophilin B; D021983:Cyclophilins
keywords: Cyclophilin B; Genotyping; Hereditary equine regional dermal asthenia; High resolution melting analysis; Quantitative real-time PCR