Molecular genetic basis of the histo-blood group ABO system

Nature. 1990 May 17;345(6272):229-33. doi: 10.1038/345229a0.

Abstract

The histo-blood group ABO, the major human alloantigen system, involves three carbohydrate antigens (ABH). A, B and AB individuals express glycosyltransferase activities converting the H antigen into A or B antigens, whereas O(H) individuals lack such activity. Here we present a molecular basis for the ABO genotypes. The A and B genes differ in a few single-base substitutions, changing four amino-acid residues that may cause differences in A and B transferase specificity. A critical single-base deletion was found in the O gene, which results in an entirely different, inactive protein incapable of modifying the H antigen.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • ABO Blood-Group System / genetics*
  • Alleles
  • Amino Acid Sequence
  • Base Sequence
  • Carbohydrate Sequence
  • Cell Line
  • DNA / genetics
  • Gene Library
  • Genotype
  • Humans
  • Molecular Sequence Data
  • Polymorphism, Genetic

Substances

  • ABO Blood-Group System
  • DNA