Diagnosis for malignant hyperthermia

Details Diagnosis for malignant hyperthermia Diagnosis for malignant hyperthermia

C - Chemistry, Metallurgy

12

N

530/13, 167/139,

C12N 15/12 (2006.01) C07K 14/05 (2006.01) C07K 14/705 (2006.01) C07K 16/28 (2006.01) C12N 5/10 (2006.01) C12Q 1/68 (2006.01)

Patent

CA 1341094

A method for isolating a cDNA specific for the human ryanodine receptor is disclosed. The gene is associated with malignant hyperthermia, a hypermetabolic syndrome triggered primarily by inhalation anaesthetics, but also present in animals, such as pigs, as induced by stress. The cDNA can be cloned and expressed in a recombinant plasmid or phage. The cDNA, or fragments thereof, is used as diagnostic probes for individuals or animals at risk for malignant hyperthermia using restriction fragment length polymorphism analysis.

612726

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