The Korean Journal of Laboratory Medicine  2010;30(3):325-328

doi:10.3343/kjlm.2010.30.3.325

Discrepancy in Genotyping of Apolipoprotein E between Allele-Specific PCR and Fluorescence Resonance Energy Transfer or Sequencing.

Chang Hun PARK 1 ; Seung Tae LEE ; Chang Seok KI ; Jong Won KIM

Affiliations

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Keywords

APOE; Allele-specific PCR; Fluorescence resonance energy transfer; Genotyping; Sequencing

Country

Republic of Korea

Language

English

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.