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Co‐segregation of the malignant hyperthermia and the Arg 615 ‐Cys 615 mutation in the skeletal muscle calcium release channel protein in five European Landrace and Pietrain pig breeds
Author(s) -
Vögeli P,
Bolt R,
Fries R,
Stranzinger G
Publication year - 1994
Publication title -
animal genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.756
H-Index - 81
eISSN - 1365-2052
pISSN - 0268-9146
DOI - 10.1111/j.1365-2052.1994.tb00404.x
Subject(s) - malignant hyperthermia , biology , ryr1 , haplotype , microbiology and biotechnology , locus (genetics) , allele , polymerase chain reaction , microsatellite , genotype , compound heterozygosity , genetics , ryanodine receptor , gene , receptor , pathology , medicine
Summary 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.