Polymorphism of the ABO blood group gene was investigated in 262 healthy Japanese donors by a polymerase chain reactions-single-strand conformation polymorphism (PCR-SSCP) method, and 13 different alleles were identified. The number of alleles identified in each group was 4 for A1 (provisionally called ABO*A101, *A102, *A103 and *A104 according to the guidelines for human gene nomenclature), 3 for B (ABO*B101, *B102 and *B103), and 6 for O (ABO*O101, *O102, *O103, *O201, *O202 and *O203). Nucleotide sequences of the amplified fragments with different SSCP patterns were determined by direct sequencing. Phylogenetic network analysis revealed that these alleles could be classified into three major lineages, *A/*O1, *B and *O2. In Japanese, *A102 and *13101 were the predominant alleles with frequencies of 83% and 97% in each group, respectively, whereas in group O, two common alleles, *O101 (43%) and *O201 (53%), were observed. These results may be useful for the establishment of ABO genotyping, and these newly described ABO alleles would be advantageous indicators for population studies.
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Japanese Red Cross Tokyo Metropolitan Blood Center, 1-26-1 Kyonan-cho, Musashino-shi, 180, Tokyo, Japan
Kenichi Ogasawara, Makoto Bannai, Ryuichi Yabe, Kenichi Nakata, Michiko Takenaka & Kiyoshi Fujisawa
Laboratory of Evolutionary Genetics, National Institute of Genetics, Japan
Naruya Saitou
Japanese Red Cross Central Blood Center, Japan
Makoto Uchikawa, Yoshihide Ishikawa, Takeo Juji & Katsushi Tokunaga
Department of Human Genetics, Graduate School of International Health, University of Tokyo, Tokyo, Japan
Katsushi Tokunaga
Ogasawara, K., Bannai, M., Saitou, N. et al. Extensive polymorphism of ABO blood group gene: three major lineages of the alleles for the common ABO phenotypes. Hum Genet 97, 777–783 (1996). https://doi.org/10.1007/BF02346189
Received: 03 July 1995
Revised: 01 September 1995
Issue Date: June 1996
DOI: https://doi.org/10.1007/BF02346189
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