Recognition of the Ek1Ek1 homozygote for plasma cholinesterase

Hum Hered. 1990;40(4):247-9. doi: 10.1159/000153938.

Abstract

A family is reported in which the propositus was found to be sensitive to suxamethonium. Both parents were heterozygote each having genotype Ea1Ek1. The sibling of the propositus had the most common phenotype as defined by dibucaine, fluoride and RO2 numbers. Genetic analysis, however, indicated that this sibling must be an Ek1Ek1 homozygote.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Cholinesterases / genetics*
  • Dibucaine
  • Female
  • Genotype
  • Homozygote*
  • Humans
  • Male
  • Middle Aged
  • Pedigree
  • Quaternary Ammonium Compounds
  • Sodium Fluoride

Substances

  • Quaternary Ammonium Compounds
  • Ro 20683
  • Sodium Fluoride
  • Cholinesterases
  • Dibucaine