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.
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.
Henry
S
S
Department of Clinical Chemistry and Transfusion Medicine, Göteborg University, Sweden.
Mollicone
R
R
Fernandez
P
P
Samuelsson
B
B
Oriol
R
R
Larson
G
G
D001483:Base Sequence; D017931:DNA Primers; D005260:Female; D005647:Fucosyltransferases / Q000235:genetics*; D005838:Genotype; D006720:Homozygote; D006801:Humans; D007214:Indonesia / Q000208:ethnology; D007532:Isoleucine; D007983:Lewis Blood Group Antigens / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D010641:Phenotype; D010649:Phenylalanine; D017354:Point Mutation; D000097631:Galactoside 2-alpha-L-fucosyltransferase
D017931:DNA Primers; D005647:Fucosyltransferases; D007532:Isoleucine; D007983:Lewis Blood Group Antigens; D010649:Phenylalanine; D000097631:Galactoside 2-alpha-L-fucosyltransferase