Article
Refinement of diagnostic assays for a probable causal mutation for porcine and human malignant hyperthermia.
Genomics - 1 Jul 1992
Otsu K, Phillips M S, Khanna V K, de Leon S, MacLennan D H
Abstract excerpt
The substitutions of T for C1843 in the porcine ryanodine receptor (RYR1) gene, which deletes a HinPI restriction endonuclease site and creates a HgiAI site, and of T for C1840 in human RYR1, which deletes a RsaI site, lead to Cys for Arg substitutions in the ryanodine receptors and are probable causal mutations for malignant hyperthermia (MH). To improve the restriction endonuclease assay of these sites, thereby...
Topics
- Animals
- Base Sequence
- DNA
- DNA Mutational Analysis
- Exons
- Humans
- Introns
- Malignant Hyperthermia
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- Receptors, Cholinergic