Ann Lab Med.  2015 Jan;35(1):137-140. 10.3343/alm.2015.35.1.137.

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

• Jung BK
• Choi GR
• Chang JH
• Cho HN
• Hyun JJ
• Nam MH
• Lim C
• Choi JS

• KMID: 2363162
• DOI: http://doi.org/10.3343/alm.2015.35.1.137

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.

Keyword

Ael; Ael03; ABO subgroup

MeSH Terms

ABO Blood-Group System/*genetics
Alleles
Base Sequence
DNA Mutational Analysis
Exons
Frameshift Mutation
Humans
Male
Middle Aged
Pedigree
Phenotype
Polymerase Chain Reaction
Republic of Korea
ABO Blood-Group System

Figure

• 

  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.

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