title: Congenital myasthenic syndrome of Brahman cattle in South Africa.
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.
authors.affiliation: Section of Epidemiology, Department of Production Animal Studies, University of Pretoria, Private Bag X04, 0110 Onderstepoort, South Africa.
authors.forename: P N
authors.initials: PN
authors.lastname: Thompson
authors.forename: O K
authors.initials: OK
authors.lastname: Steinlein
authors.forename: C K
authors.initials: CK
authors.lastname: Harper
authors.forename: S
authors.initials: S
authors.lastname: Kraner
authors.forename: J P
authors.initials: JP
authors.lastname: Sieb
authors.forename: A J
authors.initials: AJ
authors.lastname: Guthrie
mesh_terms: D000818:Animals; D000831:Animals, Newborn; D002417:Cattle; D002418:Cattle Diseases / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D004247:DNA / Q000032:analysis*; D020022:Genetic Predisposition to Disease; D008297:Male; D009154:Mutation; D020294:Myasthenic Syndromes, Congenital / Q000175:diagnosis / Q000235:genetics / Q000662:veterinary*; D010375:Pedigree; D016133:Polymerase Chain Reaction / Q000662:veterinary; D011237:Predictive Value of Tests; D011950:Receptors, Cholinergic / Q000235:genetics*; D012661:Semen; D013019:South Africa / Q000453:epidemiology
chemical_list: D011950:Receptors, Cholinergic; D004247:DNA