title: Homozygous tyrosinase gene mutation in an American black with tyrosinase-negative (type IA) oculocutaneous albinism.
abstract: We have identified a tyrosinase gene mutation in an American black with classic, tyrosinase-negative oculocutaneous albinism. This mutation results in an amino acid substitution (Cys----Arg) at codon 89 of the tyrosinase polypeptide. The proband is homozygous for the substitution, suggesting that this mutation may be frequently associated with tyrosinase-negative oculocutaneous albinism in blacks.
authors.affiliation: Department of Medical Genetics, University of Wisconsin-Madison.
authors.forename: R A
authors.initials: RA
authors.lastname: Spritz
authors.forename: K M
authors.initials: KM
authors.lastname: Strunk
authors.forename: C L
authors.initials: CL
authors.lastname: Hsieh
authors.forename: G S
authors.initials: GS
authors.lastname: Sekhon
authors.forename: U
authors.initials: U
authors.lastname: Francke
mesh_terms: D000328:Adult; D016115:Albinism, Oculocutaneous / Q000235:genetics*; D000483:Alleles; D001120:Arginine / Q000235:genetics; D044383:Black People; D015139:Blotting, Southern; D003062:Codon; D003545:Cysteine / Q000235:genetics; D004247:DNA / Q000235:genetics; D005091:Exons; D006720:Homozygote; D006801:Humans; D008297:Male; D014442:Monophenol Monooxygenase / Q000235:genetics*; D009154:Mutation; D009693:Nucleic Acid Hybridization; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic
chemical_list: D003062:Codon; D004247:DNA; D001120:Arginine; D014442:Monophenol Monooxygenase; D003545:Cysteine