Linkage of hyperkalaemic periodic paralysis in quarter horses to the horse adult skeletal muscle sodium channel gene.

J. A. Rudolph, Sharon Spier, G. Byrns, E. P. Hoffman

Research output: Contribution to journalArticle

45 Citations (Scopus)

Abstract

A genetic disease observed in certain Quarter horses is hyperkalaemic periodic paralysis (HYPP). This disease causes attacks of paralysis which can be induced by ingestion of potassium. Recent studies have shown that HYPP in humans is due to single base changes within the adult skeletal muscle sodium channel gene. A large Quarter horse pedigree segregating dominant HYPP was studied to determine if mutations of the sodium channel gene are similarly responsible for HYPP in horses. We used cross-species, PCR-mediated, cDNA cloning and sequencing of the horse adult skeletal muscle sodium channel alpha-subunit gene to identify a polymorphism, and then used this polymorphism to see if the horse sodium channel gene was genetically linked to HYPP in horses. The sodium channel gene was indeed found to be tightly linked to HYPP (LOD = 2.7, theta = 0). Our results suggest that HYPP in horses involves the same gene as the clinically similar human disease, and indicates that these are homologous disorders. The future identification of the specific sodium channel mutation causing HYPP in Quarter horses will permit the development of accurate molecular diagnostics of this condition, as has been recently shown for humans.

Original languageEnglish (US)
Pages (from-to)241-250
Number of pages10
JournalAnimal Genetics
Volume23
Issue number3
StatePublished - 1992

Fingerprint

Quarter Horse
sodium channels
Sodium Channels
paralysis
Paralysis
Horses
linkage (genetics)
skeletal muscle
Skeletal Muscle
horses
Genes
genes
genetic polymorphism
mutation
Mutation
Inborn Genetic Diseases
Molecular Pathology
genetic disorders
Pedigree
human diseases

ASJC Scopus subject areas

  • Animal Science and Zoology
  • Genetics
  • Genetics(clinical)

Cite this

Linkage of hyperkalaemic periodic paralysis in quarter horses to the horse adult skeletal muscle sodium channel gene. / Rudolph, J. A.; Spier, Sharon; Byrns, G.; Hoffman, E. P.

In: Animal Genetics, Vol. 23, No. 3, 1992, p. 241-250.

Research output: Contribution to journalArticle

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