title: Molecular characterization of secretor type alpha(1, 2)-fucosyltransferase gene deficiency in the Philippine population.
abstract: We analyzed the seven mutations which are responsible for the deficiency of the secretor type alpha(1,2)-fucosyltransferase gene product, Se enzyme, in the Philippine population. One hundred and one unrelated Filipinos in Taiwan were studied. A new mutation, a 3-base pair deletion from nt 688 through 690, was found in two (0. 1%) of 202 chromosomes. The frequencies of six other mutated alleles were as follows: 71/202 (35.2%) were cDNA 385 A-->T missensed mutation (se2), 28/202 (13.9%) were C571T nonsense mutation (se3), 16/202 (7.9%) were G849A nonsense mutation (se4), 4/202 (1.9%) were G428A nonsense mutation (se1), and 81/202 (40.1%) were wild-type allele (Se). No C628T nonsense mutations (se5) or fusion genes of pseudogene and FUT2 gene (se 6) were found in this population. For the molecular basis of phenotype Le(a+ b-): eight cases had se2/se2, six cases had se2/se3, two cases had se3/se4, one case was homozygous of se4, one case was se3/se1, and two cases were se2/se7. For the Le(a+ b+) phenotype: four cases had se2/se2, two cases had se2/se3, one case was se3/se3, and one case was se2/se4. For the Le(a- b+) phenotype: 16 cases were Se/Se, 21 cases were Se/se2, six cases were Se/se3, five cases were Se/se4, and two cases had Se/se1. Our results suggest that the genotypes of the alpha(1, 2)-fucosyltransferase gene in phenotypes Le(a+ b+) and Le(a+ b-) are the same. Other factors that play important roles may cause the differences between these two phenotypes. Several hotspot mutations in the alpha(1,2)-fucosyltransferase gene are responsible for the nonsecretor phenotype.
authors.affiliation: Department of Pediatrics, Division of Molecular Medicine, Department of Medical Research, China Medical College Hospital, 2, Yuh Der Road, Taichung, Taiwan.
authors.forename: C T
authors.initials: CT
authors.lastname: Peng
authors.forename: C H
authors.initials: CH
authors.lastname: Tsai
authors.forename: T P
authors.initials: TP
authors.lastname: Lin
authors.forename: L I
authors.initials: LI
authors.lastname: Perng
authors.forename: M C
authors.initials: MC
authors.lastname: Kao
authors.forename: T Y
authors.initials: TY
authors.lastname: Yang
authors.forename: N M
authors.initials: NM
authors.lastname: Wang
authors.forename: T C
authors.initials: TC
authors.lastname: Liu
authors.forename: S F
authors.initials: SF
authors.lastname: Lin
authors.forename: J G
authors.initials: JG
authors.lastname: Chang
mesh_terms: D005647:Fucosyltransferases / Q000172:deficiency / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007983:Lewis Blood Group Antigens / Q000235:genetics; D010641:Phenotype; D010679:Philippines; D017354:Point Mutation; D015183:Restriction Mapping; D000097631:Galactoside 2-alpha-L-fucosyltransferase
chemical_list: D005647:Fucosyltransferases; D007983:Lewis Blood Group Antigens; D000097631:Galactoside 2-alpha-L-fucosyltransferase