Abstract |
A study of the inheritance of malignant hyperthermia (MH) in the British Landrace breed revealed the same substitution of T for C at nucleotide 1843 in the ryanodine receptor ( RYR1) gene that was previously shown to be correlated with MG in five Canadian swine breeds. Cosegregation of the mutation with MH in 338 informative meioses led to a lod score of 101.75 for linkage at Omax = 0.0. The substitution was also associated with a HinPI- BanII+ RsaI- haplotype in this breed, as in the five breeds tested earlier, suggesting its origin in a common founder animal. DNA-based detection of the MH status in 376 MH-susceptible heterozygous (N/n) and homozygous (n/n) pigs was shown to be accurate, eliminating the 5% diagnostic error that is associated with the halothane challenge test and flanking marker haplotyping procedures in current diagnostic use. These results strongly support the view that the substitution of T for C at nucleotide 1843 is the causative mutation in porcine MH and demonstrate the feasibility of rapid, accurate, noninvasive, large-scale testing for porcine MH status using DNA-based tests for the mutation.
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Authors | K Otsu, V K Khanna, A L Archibald, D H MacLennan |
Journal | Genomics
(Genomics)
Vol. 11
Issue 3
Pg. 744-50
(Nov 1991)
ISSN: 0888-7543 [Print] United States |
PMID | 1774073
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Genetic Markers
- Muscle Proteins
- Receptors, Cholinergic
- Ryanodine Receptor Calcium Release Channel
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Topics |
- Animals
- Crosses, Genetic
- Genetic Markers
(genetics)
- Genetic Testing
(methods)
- Heterozygote
- Malignant Hyperthermia
(genetics, veterinary)
- Muscle Proteins
(genetics)
- Mutation
(genetics)
- Pedigree
- Receptors, Cholinergic
(genetics)
- Recombination, Genetic
(genetics)
- Ryanodine Receptor Calcium Release Channel
- Swine
(genetics)
- Swine Diseases
(genetics)
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