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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2023.4
- 수록면
- 103 - 108 (6page)
- DOI
- 10.47429/lmo.2023.13.2.103
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초록· 키워드
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Weaker ABO subgroups are the main cause of ABO discrepancies, and ABO genotyping studies are crucial to identify them. We performed ABO genotyping to determine the cause of a weak B phenotype in a Korean family, and aimed to develop a practical algorithmic approach to work-up ABO subgroups. ABO genotyping, along with serological ABO typing, was performed on exon 6 and exon 7 sites, sequentially from exon 2 to intron 6, exon 1 and the ABO promoter region, CBF/NF-Y enhancer region, +5.8-kb site in intron 1 using long PCR, and the +22.6-kb enhancer region. A single nucleotide variant (c.579T>C) known to be associated with the O04 allele was observed in exon 7, and an insertion variant (c.203+1622_1623insC) was observed in intron 4, which was confirmed to have originated from the O allele using allele-specific sequencing. Based on these results, we made a tentative determination of the O04-variant allele. No remarkable variants were observed at other sites in our study. We were unable to reveal the genetic cause of the weak B phenotype, but detected a new O04-variant allele. This stepwise algorithmic approach to work-up ABO subgroups may be a practical alternative method to whole-genome sequencing.
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