title: Novel mutations, including a novel G659A missense mutation, of the FUT1 gene are responsible for the para-Bombay phenotype.
abstract: Para-Bombay phenotype, with an estimated incidence of 1 in 8000 in Taiwanese residents based on serological analysis, is caused by aberrant alpha(1,2)-fucosyltransferase function and hence diminished H-antigen synthesis. In an individual with para-Bombay phenotype, DNA sequencing revealed two missense mutations previously reported C658T mutation and a novel G659A mutation. Haplotype analysis with restriction enzyme digestion showed that the two mutations are located on opposing alleles of the H (FUT1) gene and lead to compound heterozygosity. Since no other known genetic changes were evident, it appears that the new missense mutation, G659A, is deleterious to the alpha(1,2)-fucosyltransferase function encoded by the H (FUT1) gene.
authors.affiliation: Department of Clinical Pathology, Chang Gung Memorial Hospital, Tao-Yuan, Taiwan.
authors.forename: C F
authors.initials: CF
authors.lastname: Sun
authors.forename: M D
authors.initials: MD
authors.lastname: Lo
authors.forename: C H
authors.initials: CH
authors.lastname: Lee
authors.forename: D C
authors.initials: DC
authors.lastname: Chu
mesh_terms: D000017:ABO Blood-Group System / Q000235:genetics*; D000942:Antigens, Bacterial / Q000276:immunology; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005006:Ethnicity / Q000235:genetics; D005091:Exons; D005647:Fucosyltransferases / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010641:Phenotype; D013624:Taiwan; D000097631:Galactoside 2-alpha-L-fucosyltransferase
chemical_list: D000017:ABO Blood-Group System; D000942:Antigens, Bacterial; D005647:Fucosyltransferases; D000097631:Galactoside 2-alpha-L-fucosyltransferase; C022863:H antigen