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
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Case Reports
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Albinism / enzymology
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Albinism / genetics*
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Amino Acid Sequence
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Base Sequence
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Catechol Oxidase / genetics*
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Codon / genetics
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Female
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Genes
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Genetic Linkage
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Haplotypes
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Humans
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Male
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Molecular Sequence Data
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Monophenol Monooxygenase / deficiency
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Monophenol Monooxygenase / genetics*
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Mutation*
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Oligonucleotide Probes
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Pedigree
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Polymerase Chain Reaction
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Polymorphism, Restriction Fragment Length
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Restriction Mapping
Substances
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Codon
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Oligonucleotide Probes
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Catechol Oxidase
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Monophenol Monooxygenase