title: Molecular analysis of plasma alpha 1,3-fucosyltransferase deficiency and development of the methods for its genotyping.
abstract: Four patients with mental illness were found to be deficient in plasma alpha1,3-fucosyltransferase for the first time in Japan [Exp Clin Immunogenet 1999;16:125-130]. Complete sequencing of FUT6 genes in these individuals revealed the presence of two point mutations, i.e., G739 to A (Glu-->247 to Lys) and C945 to A (Tyr-->315 to stop). In addition to two reported alleles having G739 to A (pf1) and G739 to A and C945 to A (pf3), a new mutated allele having C945 to A (pf2) was found to be present and all the individuals who lack alpha1,3-fucosyltransferase activity in plasma were found to possess pf genes homozygously (pf/pf). In order to detect such lethal mutations in FUT6 genes easily, PCR-RFLP methods have also been developed and applied for the screening of FUT6 deficiency in a large number of samples which resulted in the demonstration of three additional FUT6-deficient individuals. The absence of alpha1,3-fucosylated molecules on alpha(1)-acid glycoprotein in plasma from all the 7 individuals was confirmed to result from the plasma alpha1,3-fucosyltransferase deficiency.
authors.affiliation: Japan Immunoresearch Laboratories, Takasaki, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Tanaka
authors.forename: S
authors.initials: S
authors.lastname: Yazawa
authors.forename: K
authors.initials: K
authors.lastname: Noguchi
authors.forename: T
authors.initials: T
authors.lastname: Nishimura
authors.forename: K
authors.initials: K
authors.lastname: Miyanaga
authors.forename: N
authors.initials: N
authors.lastname: Kochibe
authors.forename: D C
authors.initials: DC
authors.lastname: Poland
authors.lastname: Van Dijk W
authors.forename: K L
authors.initials: KL
authors.lastname: Matta
mesh_terms: D000818:Animals; D019556:COS Cells; D004789:Enzyme Activation / Q000235:genetics; D005647:Fucosyltransferases / Q000097:blood / Q000172:deficiency* / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007123:Immunoelectrophoresis, Two-Dimensional / Q000379:methods; D007983:Lewis Blood Group Antigens / Q000097:blood / Q000235:genetics; D009154:Mutation; D009961:Orosomucoid / Q000302:isolation & purification; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D012559:Schizophrenia / Q000097:blood / Q000201:enzymology / Q000235:genetics; D017422:Sequence Analysis, DNA
chemical_list: D007983:Lewis Blood Group Antigens; D009961:Orosomucoid; D005647:Fucosyltransferases; C031692:galactoside 3-fucosyltransferase