Homozygous tyrosinase gene mutation in an American black with tyrosinase-negative (type IA) oculocutaneous albinism |
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Authors: | R A Spritz K M Strunk C L Hsieh G S Sekhon U Francke |
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Affiliation: | Department of Medical Genetics, University of Wisconsin-Madison. |
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Abstract: | We have identified a tyrosinase gene mutation in an American black with classic, tyrosinase-negative oculocutaneous albinism. This mutation results in an amino acid substitution (Cys----Arg) at codon 89 of the tyrosinase polypeptide. The proband is homozygous for the substitution, suggesting that this mutation may be frequently associated with tyrosinase-negative oculocutaneous albinism in blacks. |
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