title: Rapid identification of atypical variant of plasma butyrylcholinesterase by PCR.
abstract: Human butyrylcholinesterase is the enzyme responsible of mivacurium and succinylcholine metabolism, which may be significantly impaired when mutation Asp70Gly is found in patients. We describe a simple PCR method for the detection of this variant. Thirteen out of sixteen patients tested after prolonged apnea were positive for the presence of this mutation (50.0% homozygotes and 31.3% heterozygotes), suggesting that this test contributes to the explanation of some clinical events and to their prevention in relatives of these patients.
authors.affiliation: Laboratoire de Biochimie, Toxicologie, et Pharmacologie cliniques, Hĵpital d'Instruction des Armées Bégin, Saint Mandé, France. hiabegin.biochimie@worldonline.fr
authors.forename: Franck
authors.initials: F
authors.lastname: Ceppa
authors.forename: Stephane
authors.initials: S
authors.lastname: Gidenne
authors.forename: Alain
authors.initials: A
authors.lastname: Benois
authors.forename: Eleonore
authors.initials: E
authors.lastname: Fontan
authors.forename: Pascal
authors.initials: P
authors.lastname: Burnat
mesh_terms: D001049:Apnea / Q000139:chemically induced* / Q000235:genetics; D002091:Butyrylcholinesterase / Q000097:blood / Q000235:genetics*; D005260:Female; D005820:Genetic Testing; D014644:Genetic Variation; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007546:Isoquinolines / Q000009:adverse effects; D008297:Male; D000077590:Mivacurium; D010597:Pharmacogenetics; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D012150:Polymorphism, Restriction Fragment Length; D013390:Succinylcholine / Q000009:adverse effects
chemical_list: D007546:Isoquinolines; D000077590:Mivacurium; D002091:Butyrylcholinesterase; D013390:Succinylcholine