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A simple method to detect the RYR1 mutation G1021A, a cause of malignant hyperthermia susceptibility
Author(s) -
Alestrøm A.,
Fagerlund T. H.,
Berg K.
Publication year - 1995
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1995.tb04311.x
Subject(s) - malignant hyperthermia , ryr1 , mutation , genetics , single strand conformation polymorphism , biology , heterozygote advantage , compound heterozygosity , point mutation , gene , genotype , medicine , pathology , endoplasmic reticulum , ryanodine receptor
To search for the mutations RYR1 G1021A in families where malignant hyperthermia (MH) episodes have occurred, we have used an amplificationcreated 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.