Article
Homozygous tyrosinase gene mutation in an American black with tyrosinase-negative (type IA) oculocutaneous albinism.
American journal of human genetics - 1 Feb 1991
Spritz R A, Strunk K M, Hsieh C L, Sekhon G S, Francke U
Abstract excerpt
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.
Topics
- Adult
- Albinism, Oculocutaneous
- Alleles
- Arginine
- Black People
- Blotting, Southern
- Codon
- Cysteine
- DNA
- Exons
- Homozygote
- Humans