Novel mutations, including a novel G659A missense mutation, of the FUT1 gene are responsible for the para-Bombay phenotype

Ann Clin Lab Sci. 2000 Oct;30(4):387-90.


Para-Bombay phenotype, with an estimated incidence of 1 in 8000 in Taiwanese residents based on serological analysis, is caused by aberrant alpha(1,2)-fucosyltransferase function and hence diminished H-antigen synthesis. In an individual with para-Bombay phenotype, DNA sequencing revealed two missense mutations previously reported C658T mutation and a novel G659A mutation. Haplotype analysis with restriction enzyme digestion showed that the two mutations are located on opposing alleles of the H (FUT1) gene and lead to compound heterozygosity. Since no other known genetic changes were evident, it appears that the new missense mutation, G659A, is deleterious to the alpha(1,2)-fucosyltransferase function encoded by the H (FUT1) gene.

Publication types

  • Case Reports

MeSH terms

  • ABO Blood-Group System / genetics*
  • Antigens, Bacterial / immunology
  • Base Sequence
  • DNA Mutational Analysis
  • Ethnicity / genetics
  • Exons
  • Fucosyltransferases / genetics*
  • Haplotypes
  • Humans
  • Male
  • Mutation, Missense*
  • Phenotype
  • Taiwan


  • ABO Blood-Group System
  • Antigens, Bacterial
  • H antigen
  • Fucosyltransferases
  • galactoside 2-alpha-L-fucosyltransferase