Detection of the plasma cholinesterase K variant by PCR using an amplification-created restriction site

Hum Hered. Jan-Feb 1996;46(1):26-31. doi: 10.1159/000154321.

Abstract

Ten individuals registered at the Danish Cholinesterase Research Unit were examined at the DNA level for the presence of the K allele of plasma cholinesterase, using amplification-created restriction sites (ACRSs). A further nine members of a family registered at the unit were tested for mutations of the K and atypical variants. The frequency of the K allele was calculated from examination of normal material from 25 individuals, representing 50 random alleles. The results show that the ACRS method successfully demonstrates the presence of the K variant, whose frequency in the Danish population was found to be 0.18. We conclude that this technique is a reliable and rapid non-radioactive diagnostic assay for detecting the plasma cholinesterase K variant.

MeSH terms

  • Alleles
  • Base Sequence
  • Cholinesterases / genetics*
  • DNA Primers
  • Female
  • Genetic Variation
  • Genotype
  • Humans
  • Male
  • Molecular Sequence Data
  • Pedigree
  • Polymerase Chain Reaction
  • Restriction Mapping

Substances

  • DNA Primers
  • Cholinesterases