title: Heterogeneity of the human Secretor alpha(1,2)fucosyltransferase gene among Lewis(a+b-) non-secretors.
abstract: The human Secretor alpha (1,2)fucosyltransferase gene determines the ABH secretor status and influences the Lewis phenotype of an individual. Two different se alleles with point mutations, C571 to T and G849 to A respectively, in the coding region were identified in Le(a+b-) non-secretors from one of the Taiwanese indigenous groups. The base substitutions predict the alteration of Arg191 and Trp283 to stop codons respectively, resulting in deletion of the Secretor enzyme's C-terminal segment. Both alleles of the Secretor locus in all Le(a+b-) non-secretors, but not in Le(a+b-) secretors, were further demonstrated to be either one of these two se alleles with nonsense mutations. These results suggest two new molecular bases for the null se allele responsible for the formation of the non-secretor phenotype.
authors.affiliation: Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan.
authors.forename: L C
authors.initials: LC
authors.lastname: Yu
authors.forename: R E
authors.initials: RE
authors.lastname: Broadberry
authors.forename: Y H
authors.initials: YH
authors.lastname: Yang
authors.forename: Y H
authors.initials: YH
authors.lastname: Chen
authors.forename: M
authors.initials: M
authors.lastname: Lin
mesh_terms: D000017:ABO Blood-Group System / Q000235:genetics; D000483:Alleles; D000595:Amino Acid Sequence; D001483:Base Sequence; D003001:Cloning, Molecular; D017931:DNA Primers; D005647:Fucosyltransferases / Q000235:genetics*; D006801:Humans; D007983:Lewis Blood Group Antigens / Q000096:biosynthesis / Q000235:genetics*; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D012463:Saliva / Q000201:enzymology / Q000276:immunology; D013624:Taiwan; D000097631:Galactoside 2-alpha-L-fucosyltransferase
chemical_list: D000017:ABO Blood-Group System; D017931:DNA Primers; D005647:Fucosyltransferases; D007983:Lewis Blood Group Antigens; D000097631:Galactoside 2-alpha-L-fucosyltransferase