Title |
Extensive polymorphism of ABO blood group gene: three major lineages of the alleles for the common ABO phenotypes
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Published in |
Human Genetics, June 1996
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DOI | 10.1007/bf02346189 |
Pubmed ID | |
Authors |
Kenichi Ogasawara, Makoto Bannai, Naruya Saitou, Ryuichi Yabe, Kenichi Nakata, Michiko Takenaka, Kiyoshi Fujisawa, Makoto Uchikawa, Yoshihide Ishikawa, Takeo Juji, Katsushi Tokunaga |
Abstract |
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 *B101 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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