Evidence for a single pedigree source of the hyperkalemic periodic paralysis susceptibility gene in quarter horses.
Abstract: The pedigree origin of a base pair substitution in the horse muscle sodium channel gene that confers susceptibility to the muscle disease hyperkalemic periodic paralysis (HYPP) was investigated with a set of 978 Quarter Horses. The horses were chosen at random, based on a collection of blood samples taken between 1989 and 1991 to meet parentage testing requirements, primarily but not exclusively from breeding stallions. The frequency of Quarter Horses positive for the base pair substitution, all heterozygotes, was 4.4%, which corresponds to an allelic frequency of 0.02. All horses positive for the gene traced to a single previously identified stallion as first, second or third generation descendants. A higher frequency of the HYPP susceptibility trait than expected by random occurrence was found among his descendants in this study.
Publication Date: 1996-08-01 PubMed ID: 8856926DOI: 10.1111/j.1365-2052.1996.tb00490.xGoogle Scholar: Lookup
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- Journal Article
- Research Support
- Non-U.S. Gov't
- Alleles
- Animal Science
- Diagnosis
- Disease
- Disease control
- Disease Diagnosis
- Disease Etiology
- Disease Management
- Disease Outbreaks
- Disease Prevalence
- Disease Surveillance
- Disease Treatment
- Equine Health
- Genetics
- Horses
- Hyperkalemic Periodic Paralysis
- Musculoskeletal System
- Pedigree
- Quarter Horses
- Sodium
- Veterinary Medicine
Summary
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This study investigates the origin of a genetic mutation in quarter horses that makes them susceptible to a muscle disease known as hyperkalemic periodic paralysis. The research concludes that this specific genetic mutation can be traced back to a single stallion in all the horses studied.
Research Methodology
- The researchers analysed a set of 978 Quarter Horses for the study. The horses were randomly selected from blood samples collected between 1989 and 1991 primarily from breeding stallions, in order to meet parentage testing requirements.
- This research examined whether or not these horses exhibited a specific base pair substitution in the horse muscle sodium channel gene, which has been linked to susceptibility to hyperkalemic periodic paralysis (HYPP), a muscle disease.
Findings
- Of the horses studied, 4.4% were found to be positive for the genetic mutation. As all these horses were heterozygotes (meaning they had one copy of the mutated gene and one normal gene), this corresponds to an allelic frequency of 0.02.
- The lineage of all the horses positive for the genetic mutation could be traced to a single stallion. This stallion had previously been identified and the horses in this study were first, second or third generation descendants of him.
- A higher occurrence of the HYPP susceptibility trait was found among his descendants than would be expected by random chance. This supports the assertion that the genetic mutation can be traced back to a single source.
Implications
- This research provides strong evidence that in Quarter Horses, the mutation that confers susceptibility to HYPP can be traced back to a single stallion.
- This has implications for the way in which the disease is managed in this breed of horse, as it denotes a clear hereditary link. This knowledge can also be potentially beneficial to breeders and veterinarians, assisting in their understanding of the genetic risks associated with this breed.
Cite This Article
APA
Bowling AT, Byrns G, Spier S.
(1996).
Evidence for a single pedigree source of the hyperkalemic periodic paralysis susceptibility gene in quarter horses.
Anim Genet, 27(4), 279-281.
https://doi.org/10.1111/j.1365-2052.1996.tb00490.x Publication
Researcher Affiliations
- Veterinary Genetics laboratory, School of Veterinary Medicine, University of California, Davis 95616-8744, USA.
MeSH Terms
- Animals
- Disease Susceptibility
- Gene Frequency
- Genetic Carrier Screening
- Horse Diseases
- Horses
- Hyperkalemia / genetics
- Hyperkalemia / veterinary
- Male
- Muscles / metabolism
- Paralyses, Familial Periodic / genetics
- Paralyses, Familial Periodic / veterinary
- Pedigree
- Point Mutation
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length
- Sodium Channels / genetics
Citations
This article has been cited 2 times.- Gianino GM, Valberg SJ, Perumbakkam S, Henry ML, Gardner K, Penedo C, Finno CJ. Prevalence of the E321G MYH1 variant for immune-mediated myositis and nonexertional rhabdomyolysis in performance subgroups of American Quarter Horses.. J Vet Intern Med 2019 Mar;33(2):897-901.
- Velie BD, Fegraeus KJ, Solé M, Rosengren MK, Røed KH, Ihler CF, Strand E, Lindgren G. A genome-wide association study for harness racing success in the Norwegian-Swedish coldblooded trotter reveals genes for learning and energy metabolism.. BMC Genet 2018 Aug 29;19(1):80.
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