Extensive polymorphism of ABO blood group gene: three major lineages of the alleles for the common ABO phenotypes

Hum Genet. 1996 Jun;97(6):777-83. doi: 10.1007/BF02346189.

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.

MeSH terms

  • ABO Blood-Group System / genetics*
  • Alleles
  • Base Sequence
  • Gene Frequency*
  • Humans
  • Japan
  • Molecular Sequence Data
  • Phenotype
  • Phylogeny*
  • Polymerase Chain Reaction / methods
  • Polymorphism, Genetic*
  • Polymorphism, Single-Stranded Conformational
  • Sequence Analysis, DNA

Substances

  • ABO Blood-Group System