Discrepancy in genotyping of apolipoprotein E between allele-specific PCR and fluorescence resonance energy transfer or sequencing

Korean J Lab Med. 2010 Jun;30(3):325-8. doi: 10.3343/kjlm.2010.30.3.325.

Abstract

The human apolipoprotein E (APOE) gene contains several single-nucleotide polymorphisms (SNPs) that are distributed across the gene. The genotype of the APOE gene has important implications as a risk factor for various diseases. We observed 2 cases in which the results of allele-specific PCR (AS-PCR) of the APOE gene were not consistent with those of fluorescence resonance energy transfer (FRET) or sequencing analysis. In these cases, genotyping by AS-PCR showed that patients were epsilon2 homozygotes, while sequencing analysis and FRET showed that they were epsilon2/epsilon3 heterozygotes. Herein, we describe the causes of the errors in genotyping and describe the significance of these errors.

Publication types

  • Comparative Study

MeSH terms

  • Alleles
  • Apolipoprotein E2 / genetics
  • Apolipoprotein E3 / genetics
  • Apolipoproteins E / genetics*
  • Fluorescence Resonance Energy Transfer*
  • Genotype
  • Homozygote
  • Humans
  • Polymerase Chain Reaction*
  • Polymorphism, Single Nucleotide
  • Risk Factors
  • Sequence Analysis, DNA*

Substances

  • Apolipoprotein E2
  • Apolipoprotein E3
  • Apolipoproteins E