Discrepancy in Genotyping of Apolipoprotein E between Allele-Specific PCR and Fluorescence Resonance Energy Transfer or Sequencing.
10.3343/kjlm.2010.30.3.325
- Author:
Chang Hun PARK
1
;
Seung Tae LEE
;
Chang Seok KI
;
Jong Won KIM
Author Information
1. Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. changski@skku.edu
- Publication Type:Original Article ; Comparative Study
- Keywords:
APOE;
Allele-specific PCR;
Fluorescence resonance energy transfer;
Genotyping;
Sequencing
- MeSH:
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
- From:The Korean Journal of Laboratory Medicine
2010;30(3):325-328
- CountryRepublic 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.
