A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism.
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.
Giebel
L B
LB
Department of Medical Genetics, University of Wisconsin, Madison 53706.
Strunk
K M
KM
King
R A
RA
Hanifin
J M
JM
Spritz
R A
RA
D000417:Albinism / Q000201:enzymology / Q000235:genetics*; D000595:Amino Acid Sequence; D001483:Base Sequence; D004156:Catechol Oxidase / Q000235:genetics*; D003062:Codon / Q000235:genetics; D005260:Female; D005796:Genes; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D014442:Monophenol Monooxygenase / Q000172:deficiency / Q000235:genetics*; D009154:Mutation; D015345:Oligonucleotide Probes; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D015183:Restriction Mapping
D003062:Codon; D015345:Oligonucleotide Probes; D004156:Catechol Oxidase; D014442:Monophenol Monooxygenase