Homozygous expression of a missense mutation at nucleotide 385 in the FUT2 gene associates with the Le(a+b+) partial-secretor phenotype in an Indonesian family

Biochem Biophys Res Commun. 1996 Feb 27;219(3):675-8. doi: 10.1006/bbrc.1996.0293.

Abstract

A new point mutation was found in the coding sequence of the secretor FUT2 gene. This missense mutation with an A-->T substitution at nucleotide 385 resulted in an amino acid change of Ile129 to Phe129. This mutation showed a clear genetic trait in an Indonesian pedigree and, when appearing in a homozygous form, it was associated with the red cell Le(a+b+) and salivary partial-secretor phenotype. This result suggests that the molecular basis for the Le(a+b+) and associated partial-secretor phenotype is caused by a partially inactivating amino acid change in the alpha(1,2)fucosyltransferase coded for by this new FUT2 allele.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • DNA Primers
  • Female
  • Fucosyltransferases / genetics*
  • Genotype
  • Homozygote
  • Humans
  • Indonesia / ethnology
  • Isoleucine
  • Lewis Blood Group Antigens / genetics*
  • Male
  • Molecular Sequence Data
  • Pedigree
  • Phenotype
  • Phenylalanine
  • Point Mutation*

Substances

  • DNA Primers
  • Lewis Blood Group Antigens
  • Isoleucine
  • Phenylalanine
  • Fucosyltransferases
  • galactoside 2-alpha-L-fucosyltransferase

Associated data

  • GENBANK/U17894
  • GENBANK/X53578