Discrepancy in Genotyping of <i>Apolipoprotein E</i> between Allele-Specific PCR and Fluorescence Resonance Energy Transfer or Sequencing

초록

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-FOR showed that patients were epsilon 2 homozygotes, while sequencing analysis and FRET showed that they were epsilon 2/epsilon 3 heterozygotes. Herein, we describe the causes of the errors in genotyping and describe the significance of these errors. (Korean J Lab Med 2010;30:325-8)

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