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

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.

• Authors: L B Giebel, K M Strunk, R A King, J M Hanifin, R A Spritz
• Journal: Proceedings of the National Academy of Sciences of the United States of America (Proc Natl Acad Sci U S A) Vol. 87 Issue 9 Pg. 3255-8 (May 1990) ISSN: 0027-8424 [Print] United States
• PMID: 1970634 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• Codon
• Oligonucleotide Probes
• Catechol Oxidase
• Monophenol Monooxygenase

Topics

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