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Science 26 July 1991:
Vol. 253. no. 5018, pp. 448 - 451
DOI: 10.1126/science.1862346

Articles

Science, Vol 253, Issue 5018, 448-451
Copyright © 1991 by American Association for the Advancement of Science


articles

Identification of a mutation in porcine ryanodine receptor associated with malignant hyperthermia

J Fujii, K Otsu, F Zorzato, S de Leon, VK Khanna, JE Weiler, PJ O'Brien, and DH MacLennan

Banting and Best Department of Medical Research, University of Toronto, Ontario, Canada.

Malignant hyperthermia (MH) causes neurological, liver, and kidney damage and death in humans and major economic losses in the swine industry. A single point mutation in the porcine gene for the skeletal muscle ryanodine receptor (ryr1) was found to be correlated with MH in five major breeds of lean, heavily muscled swine. Haplotyping suggests that the mutation in all five breeds has a common origin. Assuming that this is the causal mutation for MH, the development of a noninvasive diagnostic test will provide the basis for elimination of the MH gene or its controlled inclusion in swine breeding programs.


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