Rapid identification of atypical variant of plasma butyrylcholinesterase by PCR

Clin Chem Lab Med. 2002 Aug;40(8):799-801. doi: 10.1515/CCLM.2002.138.

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.

MeSH terms

  • Apnea / chemically induced*
  • Apnea / genetics
  • Butyrylcholinesterase / blood
  • Butyrylcholinesterase / genetics*
  • Female
  • Genetic Testing
  • Genetic Variation
  • Heterozygote
  • Homozygote
  • Humans
  • Isoquinolines / adverse effects
  • Male
  • Mivacurium
  • Pharmacogenetics
  • Point Mutation*
  • Polymerase Chain Reaction / methods
  • Polymorphism, Restriction Fragment Length
  • Succinylcholine / adverse effects

Substances

  • Isoquinolines
  • Mivacurium
  • Butyrylcholinesterase
  • Succinylcholine