title: Detection of point mutation in the tyrosinase gene of a Japanese albino patient by a direct sequencing of amplified DNA.
abstract: Enzymatic DNA amplification and direct DNA sequencing were used to detect a mutation in the tyrosinase gene of an albino patient. Single-base change could be detected by direct sequencing. This base change (G to A) is thought to result in an amino acid change (Arg to Gln) in tyrosinase of the patient.
authors.affiliation: Laboratory of Cancer Chemotherapy and Prevention, Research Institute for Tuberculosis and Cancer, Sendai, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Kikuchi
authors.forename: S
authors.initials: S
authors.lastname: Hara
authors.forename: S
authors.initials: S
authors.lastname: Ishiguro
authors.forename: M
authors.initials: M
authors.lastname: Tamai
authors.forename: M
authors.initials: M
authors.lastname: Watanabe
mesh_terms: D000417:Albinism / Q000235:genetics*; D000595:Amino Acid Sequence; D001483:Base Sequence; D004156:Catechol Oxidase / Q000235:genetics*; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D005784:Gene Amplification; D006801:Humans; D015151:Immunoblotting; D007564:Japan; D007962:Leukocytes; D008969:Molecular Sequence Data; D014442:Monophenol Monooxygenase / Q000235:genetics*; D009154:Mutation; D016133:Polymerase Chain Reaction
chemical_list: D004247:DNA; D004156:Catechol Oxidase; D014442:Monophenol Monooxygenase