Letter to the Editor

Ann Lab Med 2019; 39(6): 599-601

Published online November 1, 2019

Copyright © Korean Society for Laboratory Medicine.

Pitfalls of ABO Genotyping Based on Targeted Single Nucleotide Variant Analysis Due to a Nondeletional O Allele Lacking c.261delG: First Report of ABO*O.09.01 in Korea

Dahae Yang , M.D.1,2 , Boram Kim , M.D.2 , Da Young Song , M.D.2 , Tae Yeul Kim , M.D.2 , Man Jin Kim , M.D.2 , Sung Im Cho , M.T.2 , Hyungsuk Kim , M.D.2 , Moon-Woo Seong , M.D.2,3 , and Sung Sup Park , M.D.2,3

1Department of Laboratory Medicine, Kosin Gospel University Hospital, Busan, Korea; 2Department of Laboratory Medicine, Seoul National University Hospital, Seoul, Korea; 3Biomedical Research Institute, Seoul National University Hospital, Seoul, Korea

Correspondence to: Hyungsuk Kim, M.D.
Department of Laboratory Medicine, Seoul National University Hospital, 101 Daehak-ro Jongno-gu, Seoul 03080, Korea
Tel: +82-2-2072-3500, Fax: +82-2-747-0359 E-mail:

Received: April 9, 2019; Revised: April 18, 2019; Accepted: May 17, 2019

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License ( which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Fig. 1.

Family pedigree of the proband (indicated by an arrow) with ABO*O.09.01.

Abbreviation: n/a, not available.

Exon 6 and 7 ABO genotyping results using the Multiplex SNaPshot assay

Reference allele (ABO*A1.01)Nucleotide position*Probable genotype
261 G526 C703 G796 C803 G
Allele 1GCGCGA
Allele 2GCGCCcisAB

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