title: Detection of 53 novel DNA variations within the tyrosinase gene and accumulation of mutations in 17 patients with albinism.
abstract: Oculocutaneous albinism (OCA) in man may be caused by mutations within the tyrosinase gene (TYR) resulting in OCA1. Analysing patients with recessively inherited albinism we found DNA variations in 82 unrelated individuals. 53 out of 78 mutations and polymorphisms revealed by this study are not published previously. The changes include 68 nucleotide substitutions resulting in amino acid changes, stop mutations and polymorphisms as well as four nucleotide insertions and six deletions. Furthermore, we found an accumulation of three to five mutations in 17 patients with OCA1.
authors.affiliation: Institut für Humangenetik der Universität Lübeck, 23538 Lübeck, Germany.
authors.forename: Sven
authors.initials: S
authors.lastname: Opitz
authors.forename: Barbara
authors.initials: B
authors.lastname: Käsmann-Kellner
authors.forename: Markus
authors.initials: M
authors.lastname: Kaufmann
authors.forename: Eberhard
authors.initials: E
authors.lastname: Schwinger
authors.forename: Christine
authors.initials: C
authors.lastname: Zühlke
mesh_terms: D016115:Albinism, Oculocutaneous / Q000201:enzymology / Q000235:genetics*; D004247:DNA; D004252:DNA Mutational Analysis; D006801:Humans; D014442:Monophenol Monooxygenase / Q000235:genetics*; D009154:Mutation; D011110:Polymorphism, Genetic
chemical_list: D004247:DNA; D014442:Monophenol Monooxygenase