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

Proc Natl Acad Sci U S A. 1990 May;87(9):3255-8. doi: 10.1073/pnas.87.9.3255.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Albinism / enzymology
  • Albinism / genetics*
  • Amino Acid Sequence
  • Base Sequence
  • Catechol Oxidase / genetics*
  • Codon / genetics
  • Female
  • Genes
  • Genetic Linkage
  • Haplotypes
  • Humans
  • Male
  • Molecular Sequence Data
  • Monophenol Monooxygenase / deficiency
  • Monophenol Monooxygenase / genetics*
  • Mutation*
  • Oligonucleotide Probes
  • Pedigree
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length
  • Restriction Mapping

Substances

  • Codon
  • Oligonucleotide Probes
  • Catechol Oxidase
  • Monophenol Monooxygenase