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Case Reports
. 1990 May;87(9):3255-8.
doi: 10.1073/pnas.87.9.3255.

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

L B Giebel  1 , K M Strunk, R A King, J M Hanifin, R A Spritz
Affiliations
Case Reports

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

L B Giebel et al. Proc Natl Acad Sci U S A. 1990 May.

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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References

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