© 1994 Oxford University Press
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The substitution of Arg for Gly2433 in the human skeletal muscle ryanodine receptor is associated with malignant hyperthermia
1Banting and Best Department of Medical Research, University of Toronto, Charles H Best Institute 112 College Street, Toronto, Ontario M5G 1L6 2Department of Biochemistry, Medical Sciences Building, University of Toronto Toronto, Ontario M5S 1A1 3Department of Anesthesia, University of Toronto, CCRW-2–834 Toronto General Hospital 200 Elizabeth Street, Toronto, Ontario M5G 2C4, Canada
*To whom correspondence should be addressed
Received August 8, 1994; Accepted September 27, 1994
Single strand conformations! polymorphism analysis was used to screen exons 43 and 44 In the skeletal muscle ryanodlne receptor gene from 17 positively diagnosed members of families in which chromosome 19–1 Inked malignant hyperthermla (MH) was segregating. A polymorphism In two unrelated Individuals was found to result from the substitution of A for G7297, leading to the substitution of Arg for Gly2433 .This mutation Is adjacent to a mutation (Arg2434 to His) previously linked to MH and central core disease (Y.Zhang et al., Nature Genet 1993, 5, 46–50). Subsequent screening showed the presence of the mutation in four of 106 MH families tested and Its absence from about 1000 other chromosomes. The mutation was present In all six individuals In four families who had had an MH reaction, in two obligate carriers and in 10 Individuals diagnosed as MH susceptible by the caffeine/halothane contracture test (CHCT). The mutation was present In an Individual with a normal response to the CHCT and was absent in three individuals with a positive CHCT response. These discrepancies would be consistent with inaccuracies in the CHCT and/or with segregation of a second MH allele within two of the four affected families.
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