title: Discrepancy in genotyping of apolipoprotein E between allele-specific PCR and fluorescence resonance energy transfer or sequencing.
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.
authors.affiliation: Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Chang Hun
authors.initials: CH
authors.lastname: Park
authors.forename: Seung Tae
authors.initials: ST
authors.lastname: Lee
authors.forename: Chang Seok
authors.initials: CS
authors.lastname: Ki
authors.forename: Jong Won
authors.initials: JW
authors.lastname: Kim
mesh_terms: D000483:Alleles; D053329:Apolipoprotein E2 / Q000235:genetics; D053318:Apolipoprotein E3 / Q000235:genetics; D001057:Apolipoproteins E / Q000235:genetics*; D031541:Fluorescence Resonance Energy Transfer; D005838:Genotype; D006720:Homozygote; D006801:Humans; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D017422:Sequence Analysis, DNA
chemical_list: D053329:Apolipoprotein E2; D053318:Apolipoprotein E3; D001057:Apolipoproteins E