Characterization of the histo-blood group O(2) gene and its protein product

Vox Sang. 2000;79(4):219-26. doi: 10.1159/000056734.

Abstract

Background and objectives: This study aimed to show the full sequence and function of the O(2) allele, and investigate whether it accounts for the incompatible expression of A antigens in gastric carcinomas of blood group O persons.

Materials and methods: By PCR, we determined the ABO genotype of group O subjects (76 gastric carcinoma patients and 165 blood donors). Two expression constructs, encoding either the putative soluble or full-length O(2) protein, were used to transfect Sf9 cells. The expression and the activity of the O(2) protein were analysed by immunohistochemistry and enzymatic assays, respectively.

Results: No significant difference was detectable between the O(2) allele frequency in gastric carcinoma patients (3.9%) and blood donors (4.2%). Sequencing analysis of the O(2) allele revealed an intact reading frame identical to that of A transferase except for four nucleotide substitutions. O(2)-transfected Sf9 cells and gastric carcinomas genotyped as O(1)O(2) both expressed a protein recognized by anti-A/B transferase monoclonal antibodies. In enzymatic assays, the O(2) protein failed to show measurable A transferase activity.

Conclusion: The O(2) allele has an intact reading frame encoding a protein immunologically related to A/B transferases and enzymatically inactive. Further, our data gave no indication that the O(2) allele is related to the phenomenon of incompatible A antigen expression in gastric cancer.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • ABO Blood-Group System / genetics*
  • ABO Blood-Group System / metabolism
  • Alleles
  • Antibodies, Monoclonal
  • Blood Donors
  • Gastric Mucosa / enzymology
  • Gastric Mucosa / metabolism
  • Gene Frequency
  • Humans
  • Immunohistochemistry
  • Open Reading Frames
  • Point Mutation
  • RNA, Neoplasm / analysis
  • Sequence Analysis, RNA
  • Stomach Neoplasms / blood
  • Stomach Neoplasms / enzymology
  • Stomach Neoplasms / pathology
  • Transferases / genetics
  • Transferases / immunology
  • Transferases / metabolism

Substances

  • ABO Blood-Group System
  • Antibodies, Monoclonal
  • RNA, Neoplasm
  • Transferases