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KMID : 0387720120230030236
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Korean Journal of Blood Transfusion
2012 Volume.23 No. 3 p.236 ~ p.247
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Six Years’ Experience Performing ABO Genotyping by PCR-direct Sequencing
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Won Eun-Jeong
Cho Duck
Heo Min-Seok
Park Hye-Ryoen
Shin Myung-Geun
Ryang Dong-Wook
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Abstract
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Background: ABO genotyping is essential for resolving ABO grouping discrepancy and for determinating ABO
subgroups. Most clinical samples, including suspected inherited subgroups and acquired variant phenotypes, can
be determined by PCR-sequencing of exons 6 and 7 in the ABO gene. Here, we describe our six years’ experience
performing ABO genotyping by PCR-direct sequencing.
Methods: We conducted a retrospective investigation of serological and genotypical data from 205 samples (158
patients and 47 of their family members) of patients who were referred to the Molecular Genetics Laboratory at
Chonnam National University Hwasun Hospital for ABO genotyping between January 2007 and July 2012. ABO
genotyping was performed on all samples with PCR-direct sequencing of exons 6 and 7 in the ABO gene; the
standard serologic tests were also performed.
Results: The frequency of phenotypes consistent with their genotypes was 70.8% (112/158 cases) and the A2B3
phenotype with the cis-AB01 allele was the most common (31.0%, 49 cases) among them. The frequency of phenotypes
inconsistent with their genotypes was 29.1% (46/158 cases) and the A1B3 phenotype was the most frequently
recovered case (5.1%, 8 cases). Family study showed differential phenotype expression depending on the
co-inherited ABO allele in five families with the B306, cis-AB01, Ael02, Aw14, or B305 allele and also showed
a typical inheritance of a chimera with A102/B101/O04.
Conclusion: We propose that ABO genotyping using PCR-direct sequencing is useful for the resolution of ABO
discrepancies and for the investigation of ABO subgroups based on six years’ experience. In addition, family study
for analysis of phenotypic patterns of ABO subgroups is also crucial to ABO genotyping.
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KEYWORD
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ABO genotyping, PCR-direct sequencing, ABO discrepancies, ABO subgroups, Family study
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