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PMID: 1970634 Published · ppublish English Case Reports Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

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

Proceedings of the National Academy of Sciences of the United States of America ·Vol. 87 ·No. 9 ·1990-05-00 ·Pages 3255-8

Giebel LB, Strunk KM, King RA, Hanifin JM, Spritz RA

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.

MeSH Terms
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
Chemicals
Codon Oligonucleotide Probes Catechol Oxidase Monophenol Monooxygenase
Authors & Affiliations
5 authors, click to expand affiliations / ORCID
Giebel L B
Department of Medical Genetics, University of Wisconsin, Madison 53706.
Strunk K M
King R A
Hanifin J M
Spritz R A
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16 references, click to expand
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Article Info
Journal
Proceedings of the National Academy of Sciences of the United States of America
Abbr.
Proc Natl Acad Sci U S A
ISSN
0027-8424
DOI
10.1073/pnas.87.9.3255
Published
1990-05-00
Pages
3255-8
Language
English
Region
United States
NLM ID
7505876
PMCID
PMC53878
Subset
IM
Grants
NIAMS NIH HHS · AR-39892 · United States
External Links
PubMed source DOI: 10.1073/pnas.87.9.3255 PMC Full Text View journal details
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