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

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초록

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.

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.

참고문헌 (9)

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  2. Okiura T, "A-elute alleles of the ABO blood group system in Japanese", Leg Med (Tokyo), 5(S1), pp.S207~209 (2003)
  3. Choi HW, "A family study of Ael02 allele expressing different phenotypes depending on co-inhereted ABO alleles", Korean J Blood Transfus, 17, pp.146~152 (2006)
  4. Seo DH, "ABO gene analysis of cis-AB and B subgroup in blood donors", Korean J Blood Transfus, 11, pp.27~34 (2000)
  5. 주신영, "전형적인 O형 표현형의 ABO*Ael02", O04 유전형 1예, 2008, pp.28(4), 319~324[DOI]
  6. Kang SH, "Distribution of ABO genotypes and allele frequencies in a Korean population.", Jpn J Hum Genet, 42, pp.331~335 (1997)
  7. Ogasawara K, "Extensive polymorphism of ABO blood group gene: three major lineages of the alleles for the common ABO phenotypes", Hum Genet, 97, pp.777~783 (1996)
  8. Ogasawara K, "Recombination and gene conversion-like events may contribute to ABO gene diversity causing various phenotypes", Immunogenetics, 53, pp.190~199 (2001)
  9. Cho D, "A novel B(var) allele (547 G>A) demonstrates differential expression depending on the co-inherited ABO allele", Vox Sang, 87, pp.187~189 (2004)

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