A Frequent Tyrosinase Gene Mutation in Classic, Tyrosinase-Negative (Type IA) Oculocutaneous Albinism

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 oculocuta...

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Bibliographic Details
Published in:Proceedings of the National Academy of Sciences - PNAS 1990-05, Vol.87 (9), p.3255-3258
Main Authors: Giebel, Lutz B., Strunk, Kathleen M., King, Richard A., Hanifin, Jon M., Spritz, Richard A.
Format: Article
Language:English
Subjects:
albinism
Albinism - enzymology
Albinism - genetics
Alleles
Amino Acid Sequence
Base Sequence
Biological and medical sciences
Catechol Oxidase - genetics
Codon - genetics
Codons
Complementary DNA
Dermatology
Exons
Female
Genes
Genetic Linkage
Genetic mutation
Haplotypes
Heterozygotes
Humans
Introns
Male
Medical sciences
Molecular Sequence Data
Monophenol Monooxygenase - deficiency
Monophenol Monooxygenase - genetics
Mutation
Oculocutaneous albinism
Oligonucleotide Probes
Pedigree
Pigmentary diseases of the skin
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length
Restriction Mapping
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Description
Summary: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.
ISSN:0027-8424
1091-6490
DOI:10.1073/pnas.87.9.3255