title: Co-segregation of the malignant hyperthermia and the Arg615-Cys615 mutation in the skeletal muscle calcium release channel protein in five European Landrace and Pietrain pig breeds.
abstract: A total of 392 pigs of European Landrace and Pietrain origin segregating for malignant hyperthermia (MH) were genotyped using a polymerase chain reaction (PCR)/restriction endonuclease test for the C-T mutation at nucleotide (nt) 1843 in the skeletal muscle ryanodine receptor (RYR1) gene, earlier identified as the causal mutation for MH. All pigs had been halothane tested and genotyped at linked polymorphic marker loci. There was complete correlation between MH status of the 392 animals, as diagnosed by a combination of the halothane challenge test with S, GPI, H, A1BG, PGD haplotyping, and the DNA-based test. DNA-based detection of the MH status in 238 MH-susceptible heterozygous (N/n) and homozygous (n/n) pigs was shown to be accurate, eliminating the 2% diagnostic error that is associated with the halothane challenge test. The mutation was also associated with an allele of a polymorphic microsatellite (ETH5 001) at the RYR1 locus.
authors.affiliation: Department of Animal Science, Swiss Federal Institute of Technology, Zurich.
authors.forename: P
authors.initials: P
authors.lastname: Vögeli
authors.forename: R
authors.initials: R
authors.lastname: Bolt
authors.forename: R
authors.initials: R
authors.lastname: Fries
authors.forename: G
authors.initials: G
authors.lastname: Stranzinger
mesh_terms: D000483:Alleles; D000818:Animals; D001483:Base Sequence; D015220:Calcium Channels / Q000235:genetics*; D017931:DNA Primers / Q000235:genetics; D004276:DNA, Satellite / Q000235:genetics; D005060:Europe; D005260:Female; D005838:Genotype; D006221:Halothane; D006239:Haplotypes; D008297:Male; D008305:Malignant Hyperthermia / Q000175:diagnosis / Q000235:genetics / Q000662:veterinary*; D008969:Molecular Sequence Data; D009124:Muscle Proteins / Q000235:genetics*; D017354:Point Mutation; D011110:Polymorphism, Genetic; D019837:Ryanodine Receptor Calcium Release Channel; D013045:Species Specificity; D013552:Swine; D013553:Swine Diseases / Q000175:diagnosis / Q000235:genetics*
chemical_list: D015220:Calcium Channels; D017931:DNA Primers; D004276:DNA, Satellite; D009124:Muscle Proteins; D019837:Ryanodine Receptor Calcium Release Channel; D006221:Halothane