title: A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism.
abstract: We have identified a tyrosinase gene mutation in several patients with classic, tyrosinase-negative (type IA) oculocutaneous albinism. This mutation, which results in a proline----leucine substitution at codon 81 of the tyrosinase polypeptide (EC 1.14.18.1), was observed in 20% (6 of 30) of oculocutaneous albinism alleles from independent probands, but it was not observed in any normal individuals. This mutation thus appears to be a frequent cause of tyrosinase-negative oculocutaneous albinism.
authors.affiliation: Department of Medical Genetics, University of Wisconsin, Madison 53706.
authors.forename: L B
authors.initials: LB
authors.lastname: Giebel
authors.forename: K M
authors.initials: KM
authors.lastname: Strunk
authors.forename: R A
authors.initials: RA
authors.lastname: King
authors.forename: J M
authors.initials: JM
authors.lastname: Hanifin
authors.forename: R A
authors.initials: RA
authors.lastname: Spritz
mesh_terms: D000417:Albinism / Q000201:enzymology / Q000235:genetics*; D000595:Amino Acid Sequence; D001483:Base Sequence; D004156:Catechol Oxidase / Q000235:genetics*; D003062:Codon / Q000235:genetics; D005260:Female; D005796:Genes; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D014442:Monophenol Monooxygenase / Q000172:deficiency / Q000235:genetics*; D009154:Mutation; D015345:Oligonucleotide Probes; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D015183:Restriction Mapping
chemical_list: D003062:Codon; D015345:Oligonucleotide Probes; D004156:Catechol Oxidase; D014442:Monophenol Monooxygenase