Rapid identification of atypical variant of plasma butyrylcholinesterase by PCR.
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.
Ceppa
Franck
F
Laboratoire de Biochimie, Toxicologie, et Pharmacologie cliniques, Hĵpital d'Instruction des Armées Bégin, Saint Mandé, France. hiabegin.biochimie@worldonline.fr
Gidenne
Stephane
S
Benois
Alain
A
Fontan
Eleonore
E
Burnat
Pascal
P
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
D007546:Isoquinolines; D000077590:Mivacurium; D002091:Butyrylcholinesterase; D013390:Succinylcholine