Detection of point mutation in the tyrosinase gene of a Japanese albino patient by a direct sequencing of amplified DNA.
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.
Kikuchi
H
H
Laboratory of Cancer Chemotherapy and Prevention, Research Institute for Tuberculosis and Cancer, Sendai, Japan.
Hara
S
S
Ishiguro
S
S
Tamai
M
M
Watanabe
M
M
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
D004247:DNA; D004156:Catechol Oxidase; D014442:Monophenol Monooxygenase