Congenital myasthenic syndrome of Brahman cattle in South Africa

Vet Rec. 2003 Dec;153(25):779-81.

Abstract

A congenital myasthenic syndrome in Brahman cattle is caused by a homozygous 20 base pair deletion (470del20) in the gene coding for the epsilon subunit of the acetylcholine receptor at the neuromuscular junction. It causes a progressive muscle weakness starting either at birth or within the first month. A PCR-based DNA test, using blood or semen stored on FTA paper, was developed and validated; the test makes it possible to differentiate rapidly and accurately between homozygous wild-type, heterozygous and homozygous affected animals. Preliminary testing of Brahman cattle in South Africa has revealed several carrier animals, some of them influential animals in the breeding population.

Publication types

  • Evaluation Study

MeSH terms

  • Animals
  • Animals, Newborn
  • Cattle
  • Cattle Diseases / diagnosis*
  • Cattle Diseases / epidemiology
  • Cattle Diseases / genetics*
  • DNA / analysis*
  • Genetic Predisposition to Disease*
  • Male
  • Mutation
  • Myasthenic Syndromes, Congenital / diagnosis
  • Myasthenic Syndromes, Congenital / genetics
  • Myasthenic Syndromes, Congenital / veterinary*
  • Pedigree
  • Polymerase Chain Reaction / veterinary
  • Predictive Value of Tests
  • Receptors, Cholinergic / genetics*
  • Semen
  • South Africa / epidemiology

Substances

  • Receptors, Cholinergic
  • DNA