Rare variant of apolipoprotein E (Arg136-->Cys) in a subject with normal lipid values

Physiol Res. 2002;51(1):107-8.

Abstract

During the screening of apolipoprotein (apo) E gene polymorphism with PCR and subsequent restriction analysis, we have identified a female carrier with a mutant allele Arg136-->Cys. This proband had normal lipid parameters and no history of coronary artery disease (CAD). We did not confirm the previously described connection between apo E Arg136-->Cys mutation and elevated lipid levels. In the case of this mutation, other factors (environmental and/or genetic) are important for the development of lipid metabolism disorders.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Alleles
  • Apolipoproteins E / genetics*
  • Female
  • Humans
  • Lipids / blood*
  • Lipoproteins, VLDL / blood
  • Polymorphism, Genetic / genetics
  • Reverse Transcriptase Polymerase Chain Reaction

Substances

  • Apolipoproteins E
  • Lipids
  • Lipoproteins, VLDL