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

Vet J. 2014 Feb;199(2):306-7. doi: 10.1016/j.tvjl.2013.11.008. Epub 2013 Nov 19.

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: Cyclophilin B; Genotyping; Hereditary equine regional dermal asthenia; High resolution melting analysis; Quantitative real-time PCR.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Asthenia / genetics
  • Asthenia / veterinary*
  • Brazil
  • Cyclophilins / genetics
  • Gene Frequency*
  • Genotyping Techniques / veterinary
  • Horse Diseases / genetics*
  • Horses
  • Mutation, Missense
  • Real-Time Polymerase Chain Reaction / veterinary
  • Skin Diseases, Genetic / enzymology
  • Skin Diseases, Genetic / genetics
  • Skin Diseases, Genetic / veterinary*

Substances

  • cyclophilin B
  • Cyclophilins