Histo-Blood Group A Variants, O Variants, and Their Alleles

  • Sen-itiroh Hakomori
  • Monica Palcic
Reference work entry


The allelic basis of the blood group ABO system was established in 1990 when the genes for human blood group A and B synthesizing glycosyltransferases were cloned (Yamamoto et al. 1990) and it was shown that there were only four amino acid differences between the blood group A and B synthesizing glycosyltransferases GTA and GTB (Arg/Gly176, Gly/Ser235, Leu/Met266 and Gly/Ala268). The O gene had a single-nucleotide deletion which resulted in a truncated inactive enzyme. Since the ABO system is based on red blood cell agglutination, it has been possible to identify many other alleles from routine blood typing carried out worldwide in blood banking centers (Storry and Olsson 2009; Yamamoto et al. 2012). Thus subgroups of A and B can be identified by weak and/or anomalous agglutination patterns in forward and reverse blood typing. DNA sequencing is carried out on any samples suspected of having alleles other than the original three. Currently (May 2013) 306 ABO alleles are tabulated in the blood group antigen mutation database (BGMUT) that is part of the dbRBC resource of the National Center for Biotechnology (Patnaik et al. 2012). However, new alleles are continually being identified. ABO is therefore considered to be one of the most genetically complex blood group systems.


Blood Group Critical Amino Acid Inactive Enzyme Human Blood Group Allelic Basis 
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Copyright information

© Springer Japan 2014

Authors and Affiliations

  1. 1.Division of Biomembrane Research, Pacific Northwest Research Institute Departments of Microbiology and PathobiologyUniversity of WashingtonSeattleUSA
  2. 2.Carlsberg LaboratoryCopenhagen VDenmark

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