HOMOZYGOUS EXPRESSION OF A MISSENSE MUTATION AT NUCLEOTIDE-385 IN THEFUT2 GENE ASSOCIATES WITH THE LE(A-SECRETOR PHENOTYPE IN AN INDONESIAN FAMILY(B+) PARTIAL)

A new point mutation was found in the coding sequence of the secretor FUT2 gene. This missense mutation with an A-->T substitution at nucleo tide 385 resulted in an amino acid change of Ile129 to Phe129. This mu tation showed a clear genetic trait in an Indonesian pedigree and, whe n 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-secr etor phenotype is caused by a partially inactivating amino acid change in the alpha(1,2)fucosyltransferase coded for by this new FUT2 allele . (C) 1996 Academic Press, Inc.