Korean J Lab Med.  2006 Oct;26(5):374-379. 10.3343/kjlm.2006.26.5.374.

Analysis for Eight ABO Alleles in Korean Population

• Song SH
• Chang HE
• Ryu KC
• Lee HJ
• Park KU
• Song J
• Han KS

• KMID: 2238862
• DOI: http://doi.org/10.3343/kjlm.2006.26.5.374

Abstract

BACKGROUND: ABO genotyping is a useful tool in case of ABO discrepancies and in legal medicine. Recent knowledge of various alleles in the ABO gene has led to the need of a different method that can cover numerous polymorphisms. We performed a polymerase chain reaction using sequencespecific priming (PCR-SSP) with 12 primer sets and evaluated its value in the detection of 8 ABO alleles.
METHODS
Genomic DNA was isolated from peripheral blood of 222 unrelated Koreans. Sequencespecific primer sets for the nucleotides 261, 297, 467, 802, 803, and 1059 were selected, and 12 PCR reactions were performed for each sample. Direct sequencing was performed to evaluate the accuracy of discrimination between A1(Pro) and A1(Leu) and between O1 and O1v.
RESULTS
All the ABO genotype patterns were in an exact match with the ABO phenotypes. The results from sequencing and PCR-SSP were equivalent. The allele frequencies of A1, B, O1, and O1v were 27.25%, 19.82%, 27.25%, and 25.68% respectively. Out of total 121 A1 alleles, 6 (4.96%) were A1(Pro) alleles and 115 (95.04%) were A1(Leu) alleles. No A2, O2, or CisAB alleles were found in this study.
CONCLUSIONS
The proportion of O1v allele was similar to that of O1 allele. This was an unexpected result. We developed a method for detecting 8 ABO alleles by PCR-SSP; the method was accurate and was able to discriminate between A1(Pro) and A1(Leu) and between O1 and O1v.

Keyword

ABO; Polymerase chain reaction; Allele; A1(Leu); O1v

MeSH Terms

Alleles*
Discrimination (Psychology)
DNA
Forensic Medicine
Gene Frequency
Genotype
Nucleotides
Phenotype
Polymerase Chain Reaction
DNA
Nucleotides