Proc Natl Acad Sci U S A. 1990 May;87(9):3255-8.

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

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

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Department of Medical Genetics, University of Wisconsin, Madison 53706.

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.

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PMCID:: PMC53878

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