Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
, 35 (1), 137-40

ABO*Ael03/O Genotype With ABO Discrepancy: The First Case in Korea

Affiliations
Case Reports

ABO*Ael03/O Genotype With ABO Discrepancy: The First Case in Korea

Bo Kyeung Jung et al. Ann Lab Med.

Abstract

The Ael subgroup expresses the least amount of A antigens and could only be detected by performing the adsorption-elution test. The frequency of the Ael subgroup is about 0.001% in Koreans, and the Ael02 allele, which originates from A102, is the most frequently identified allele in the Korean population. We report a Korean family with the Ael03 allele identified by molecular genetic analysis. To the best of our knowledge, this is the first such report in Korea to date.

Keywords: ABO subgroup; Ael; Ael03.

Conflict of interest statement

No potential conflicts of interest relevant to this article were reported.

Figures

Fig. 1
Fig. 1
The pedigree and the results of sequencing. (A) Pedigree demonstrating the inheritance of the Ael03 allele. The phenotype and genotype are indicated below each symbol. The arrow indicates proband. (B) Schemes for generation of frame shift mutation caused by single-base deletion at nucleotide 804.

Similar articles

See all similar articles

Cited by 1 PubMed Central articles

References

    1. Cho D, Shin MG, Yazer MH, Kee SJ, Shin JH, Suh SP, et al. The genetic and phenotypic basis of blood group A subtypes in Koreans. Transfus Med. 2005;15:329–334. - PubMed
    1. Okiura T, Fukumori Y, Nishimura K, Orimoto C, Fujii K, Nishimukai H. A-elute alleles of the ABO blood group system in Japanese. Leg Med (Tokyo) 2003;5(S1):S207–S209. - PubMed
    1. Choi HW, Cho D, Jeon MJ, Lee JS, Song JW, Shin MG, et al. A family study of Ael02 allele expressing different phenotypes depending on co-inhereted ABO alleles. Korean J Blood Transfus. 2006;17:146–152.
    1. Seo DH, Lee CY, Kim DW, Kim SI. ABO gene analysis of cis-AB and B subgroup in blood donors. Korean J Blood Transfus. 2000;11:27–34.
    1. Joo SY, Shim YS, Kim MJ, Kwon HL, Lee K, Chang HE, et al. A case of ABO*Ael02/O04 genotype with typical phenotype O. Korean J Lab Med. 2008;28:319–324. - PubMed

Publication types

Substances

Feedback