Correlation of a missense mutation in the human Secretor alpha 1,2-fucosyltransferase gene with the Lewis(a+b+) phenotype: a potential molecular basis for the weak Secretor allele (Sew).
A missense mutation (A385 to T), predicting an Ile129 to Phe substitution, in the human Secretor alpha 1,2-fucosyltransferase gene was present in double dose in Lewis(a+b+) individuals, but not in Lewis(a-b+) individuals. Co-segregation of the Lewis(a+b+) phenotype with homozygosity for the mutation was also verified. These results yield a potential molecular basis for the weak Secretor allele (Sew) accounting for the Lewis(a+b+) phenotype.
Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan.
L C
LC
Yu
Y H
YH
Yang
R E
RE
Broadberry
Y H
YH
Chen
Y S
YS
Chan
M
M
Lin
D000483:Alleles; D000818:Animals; D000911:Antibodies, Monoclonal; D001483:Base Sequence; D002240:Carbohydrate Sequence; D003001:Cloning, Molecular; D017931:DNA Primers; D005260:Female; D005647:Fucosyltransferases / Q000096:biosynthesis / Q000235:genetics*; D006801:Humans; D007532:Isoleucine; D007983:Lewis Blood Group Antigens / Q000235:genetics*; D008297:Male; D051379:Mice / Q000276:immunology; D008969:Molecular Sequence Data; D010375:Pedigree; D010641:Phenotype; D010649:Phenylalanine; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011994:Recombinant Proteins / Q000096:biosynthesis; D000097631:Galactoside 2-alpha-L-fucosyltransferase
D000911:Antibodies, Monoclonal; D017931:DNA Primers; D005647:Fucosyltransferases; D007532:Isoleucine; D007983:Lewis Blood Group Antigens; D010649:Phenylalanine; D011994:Recombinant Proteins; D000097631:Galactoside 2-alpha-L-fucosyltransferase