Point mutations and deletion responsible for the Bombay H null and the Reunion H weak blood groups

Vox Sang. 1998;75(1):37-46.


Objective: Definition of the molecular basis of the Reunion and the Bombay red cell and salivary H-deficient phenotypes.

Methods: Sequence and expression of FUT1 and FUT2 genes from H-deficient individuals. Family segregation analysis of the mutations responsible for the fucosyltransferase defects of H, secretor and Lewis systems.

Results: The Indian red cell H null Bombay phenotype depends on a new mutation of the FUT1 gene. T725-->G changing Leu242-->Arg. Their salivary nonsecretor phenotype is secondary to a complete deletion of the FUT2 gene. The red cell H weak Reunion phenotype depends on another new mutation of FUT1, C349-->T which induces a change of His117-->Tyr. Their salivary nonsecretor phenotype is due to the known Caucasian inactivating mutation G428-->A.

Conclusion: Single prevalent FUT1 and FUT2 point mutations and a deletion are responsible for the Indian Bombay H null and the Reunion H weak phenotypes found on Reunion island. This is in contrast with other H-deficient phenotypes where sporadic nonprevalent inactivating mutations are the rule.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • ABO Blood-Group System / biosynthesis*
  • Alleles
  • Amino Acid Substitution*
  • Animals
  • COS Cells
  • Chromosomes, Human, Pair 19 / genetics
  • Evolution, Molecular
  • Female
  • Fucosyltransferases / genetics*
  • Galactoside 2-alpha-L-fucosyltransferase
  • Humans
  • India
  • Male
  • Oligosaccharides / metabolism
  • Pedigree
  • Phenotype
  • Point Mutation*
  • Recombinant Fusion Proteins / biosynthesis
  • Reunion
  • Saliva / immunology
  • Salivary Proteins and Peptides / biosynthesis
  • Salivary Proteins and Peptides / immunology
  • Salivary Proteins and Peptides / metabolism
  • Sequence Deletion*
  • Transfection


  • ABO Blood-Group System
  • Oligosaccharides
  • Recombinant Fusion Proteins
  • Salivary Proteins and Peptides
  • Fucosyltransferases