A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism

Lutz B. Giebel, Kathleen M. Strunk, Richard A. King, Jon M. Hanifin, Richard A. Spritz

Research output: Contribution to journalArticle

57 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)3255-3258
Number of pages4
JournalProceedings of the National Academy of Sciences of the United States of America
Volume87
Issue number9
DOIs
StatePublished - May 1990

Keywords

  • Albino
  • Melanin
  • Pigment disorders

ASJC Scopus subject areas

  • General

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