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)

L C Yu; Y H Yang; R E Broadberry; Y H Chen; Y S Chan; M Lin

doi:10.1042/bj3120329

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)

Biochem J. 1995 Dec 1;312 ( Pt 2)(Pt 2):329-32. doi: 10.1042/bj3120329.

Authors

L C Yu¹, Y H Yang, R E Broadberry, Y H Chen, Y S Chan, M Lin

Affiliation

¹ Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan.

Abstract

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Alleles
Animals
Antibodies, Monoclonal
Base Sequence
Carbohydrate Sequence
Cloning, Molecular
DNA Primers
Female
Fucosyltransferases / biosynthesis
Fucosyltransferases / genetics*
Galactoside 2-alpha-L-fucosyltransferase
Humans
Isoleucine
Lewis Blood Group Antigens / genetics*
Male
Mice / immunology
Molecular Sequence Data
Pedigree
Phenotype
Phenylalanine
Point Mutation*
Polymerase Chain Reaction
Recombinant Proteins / biosynthesis

Substances

Antibodies, Monoclonal
DNA Primers
Lewis Blood Group Antigens
Recombinant Proteins
Isoleucine
Phenylalanine
Fucosyltransferases