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

• Published in: The veterinary journal (1997) Vol. 199; no. 2; pp. 306 - 307
• Main Authors: Badial, Peres R., Oliveira-Filho, José P., Winand, Nena J., Borges, Alexandre S.
• Format: Journal Article
• Language: English
• Published: England Elsevier Ltd 01.02.2014
• Subjects: Animals; Asthenia - genetics; Asthenia - veterinary; Brazil; Cyclophilin B; Cyclophilins - genetics; Gene Frequency; Genotyping; Genotyping Techniques - veterinary; Hereditary equine regional dermal asthenia; High resolution melting analysis; Horse Diseases - genetics; Horses; Mutation, Missense; Quantitative real-time PCR; Real-Time Polymerase Chain Reaction - veterinary; Skin Diseases, Genetic - enzymology; Skin Diseases, Genetic - genetics; Skin Diseases, Genetic - veterinary; Brazil; High resolution melting analysis; Hereditary equine regional dermal asthenia; Quantitative real-time PCR; Cyclophilin B; Genotyping
• ISSN: 1090-0233; 1532-2971
• DOI: 10.1016/j.tvjl.2013.11.008

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.