Cholinesterase variants: rapid characterisation by PCR/SSCP and evidence for molecular homogeneity

J Med Genet. 1995 Feb;32(2):109-12. doi: 10.1136/jmg.32.2.109.

Abstract

We have applied the technique of PCR-SSCP (polymerase chain reaction-single stranded conformation polymorphism) to characterise the molecular basis of cholinesterase deficiency and variants in a Jordanian family. PCR-SSCP proved to be a quick and sensitive method of screening cholinesterase variants in a clinical setting. An AG insertion at position 351 was found to cause a silent allele, for which the parents were heterozygous and three children homozygous. In addition, the father and two sons were heterozygous for an A to G transition at position 209, known to cause the dibucaine resistant variant. No linkage to the K variant was found, which has been reported previously in white populations. These findings suggest considerable homogeneity in the molecular basis of CHE variants between different ethnic groups.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Alleles
  • Base Sequence
  • Cholinesterases / blood
  • Cholinesterases / deficiency*
  • Cholinesterases / genetics*
  • Dibucaine
  • Female
  • Frameshift Mutation / genetics
  • Genetic Linkage
  • Genetic Testing
  • Genotype
  • Humans
  • Jordan
  • Male
  • Metabolism, Inborn Errors / enzymology*
  • Metabolism, Inborn Errors / ethnology
  • Metabolism, Inborn Errors / genetics*
  • Molecular Sequence Data
  • Pedigree
  • Point Mutation / genetics
  • Polymerase Chain Reaction
  • Polymorphism, Single-Stranded Conformational
  • Sequence Analysis, DNA

Substances

  • Cholinesterases
  • Dibucaine