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.
Original language | English (US) |
---|---|
Pages (from-to) | 3255-3258 |
Number of pages | 4 |
Journal | Proceedings of the National Academy of Sciences of the United States of America |
Volume | 87 |
Issue number | 9 |
DOIs | |
State | Published - May 1990 |
Externally published | Yes |
Keywords
- Albino
- Melanin
- Pigment disorders
ASJC Scopus subject areas
- General