A simple method to detect the RYR1 mutation G1021A, a cause of malignant hyperthermia susceptibility.
To search for the mutations RYR1 G1021A in families where malignant hyperthermia (MH) episodes have occurred, we have used an amplification-created restriction sites (ACRS) technique to detect the mutation. The previously described single-stranded conformation polymorphism (SSCP) technique was laborious and time consuming, but necessary to detect the mutation, whereas the method described here discriminates quickly and efficiently between homozygotes with the mutation, heterozygotes and homozygotes without the mutation.
Alestrøm
A
A
Institute of Medical Genetics, University of Oslo, Norway.
Fagerlund
T H
TH
Berg
K
K
D001483:Base Sequence; D015220:Calcium Channels / Q000235:genetics*; D017931:DNA Primers; D020022:Genetic Predisposition to Disease; D006801:Humans; D008305:Malignant Hyperthermia / Q000235:genetics*; D008969:Molecular Sequence Data; D009124:Muscle Proteins / Q000235:genetics*; D009154:Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D019837:Ryanodine Receptor Calcium Release Channel
D015220:Calcium Channels; D017931:DNA Primers; D009124:Muscle Proteins; D019837:Ryanodine Receptor Calcium Release Channel