title: A comparison of the caffeine halothane muscle contracture test with the molecular genetic diagnosis of malignant hyperthermia.
abstract: Malignant hyperthermia (MH) is currently diagnosed by the caffeine-halothane contracture (CHC) test. In a previous study, this test was used to establish linkage between the human gene for MH susceptibility and the ryanodine receptor (RYR) gene. The current study extends the genetic linkage analysis to a large French-Canadian kindred. In this family, genetic linkage between RYR and MH genes was not demonstrable using the currently recommended limits of normal for the CHC test in the identification of MH-susceptible individuals. With CHC test threshold limits below those currently recommended, however, complete linkage between the RYR and MH genes was seen. Comparisons of CHC test results with genetic linkage studies will increase the diagnostic accuracy of both tests as well as generate new insights into the biology of MH.
authors.affiliation: Division of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada.
authors.forename: A E
authors.initials: AE
authors.lastname: MacKenzie
authors.forename: G
authors.initials: G
authors.lastname: Allen
authors.forename: D
authors.initials: D
authors.lastname: Lahey
authors.forename: M L
authors.initials: ML
authors.lastname: Crossan
authors.forename: K
authors.initials: K
authors.lastname: Nolan
authors.forename: G
authors.initials: G
authors.lastname: Mettler
authors.forename: R G
authors.initials: RG
authors.lastname: Worton
authors.forename: D H
authors.initials: DH
authors.lastname: MacLennan
authors.forename: R
authors.initials: R
authors.lastname: Korneluk
mesh_terms: D000483:Alleles; D002110:Caffeine; D002648:Child; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006221:Halothane; D006801:Humans; D008297:Male; D008305:Malignant Hyperthermia / Q000175:diagnosis* / Q000235:genetics; D009119:Muscle Contraction / Q000187:drug effects*; D011110:Polymorphism, Genetic; D011950:Receptors, Cholinergic / Q000235:genetics*; D019837:Ryanodine Receptor Calcium Release Channel
chemical_list: D005819:Genetic Markers; D011950:Receptors, Cholinergic; D019837:Ryanodine Receptor Calcium Release Channel; D002110:Caffeine; D006221:Halothane