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KMID : 0981820100300030325
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Korean Journal of Laboratory Medicine
2010 Volume.30 No. 3 p.325 ~ p.328
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Discrepancy in Genotyping of Apolipoprotein E between Allele-Specific PCR and Fluorescence Resonance Energy Transfer or Sequencing
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Park Chang-Hun
Lee Seung-Tae
Ki Chang-Seok
Lee Seung-Tae
Ki Chang-Seok
Kim Jong-Won
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Abstract
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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 ε2 homozygotes, while sequencing analysis and FRET showed that they were ε2/ε3 heterozygotes. Herein, we describe the causes of the errors in genotyping and describe the significance of these errors.
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KEYWORD
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APOE, Allele-specific PCR, Fluorescence resonance energy transfer, Genotyping, Sequencing
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