title: Extensive polymorphism of ABO blood group gene: three major lineages of the alleles for the common ABO phenotypes.
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.
authors.affiliation: Japanese Red Cross Tokyo Metropolitan Blood Center, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Ogasawara
authors.forename: M
authors.initials: M
authors.lastname: Bannai
authors.forename: N
authors.initials: N
authors.lastname: Saitou
authors.forename: R
authors.initials: R
authors.lastname: Yabe
authors.forename: K
authors.initials: K
authors.lastname: Nakata
authors.forename: M
authors.initials: M
authors.lastname: Takenaka
authors.forename: K
authors.initials: K
authors.lastname: Fujisawa
authors.forename: M
authors.initials: M
authors.lastname: Uchikawa
authors.forename: Y
authors.initials: Y
authors.lastname: Ishikawa
authors.forename: T
authors.initials: T
authors.lastname: Juji
authors.forename: K
authors.initials: K
authors.lastname: Tokunaga
mesh_terms: D000017:ABO Blood-Group System / Q000235:genetics*; D000483:Alleles; D001483:Base Sequence; D005787:Gene Frequency; D006801:Humans; D007564:Japan; D008969:Molecular Sequence Data; D010641:Phenotype; D010802:Phylogeny; D016133:Polymerase Chain Reaction / Q000379:methods; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational; D017422:Sequence Analysis, DNA
chemical_list: D000017:ABO Blood-Group System