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.
Publication types
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Adult
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Albinism, Oculocutaneous / genetics*
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Alleles
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Arginine / genetics
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Black People
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Blotting, Southern
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Codon
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Cysteine / genetics
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DNA / genetics
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Exons
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Homozygote*
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Humans
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Male
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Monophenol Monooxygenase / genetics*
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Mutation
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Nucleic Acid Hybridization
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Polymerase Chain Reaction
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Polymorphism, Genetic
Substances
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Codon
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DNA
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Arginine
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Monophenol Monooxygenase
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Cysteine