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PMID: 1899321 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

Homozygous tyrosinase gene mutation in an American black with tyrosinase-negative (type IA) oculocutaneous albinism.

American journal of human genetics ·Vol. 48 ·No. 2 ·1991-02-00 ·Pages 318-24

Spritz RA, Strunk KM, Hsieh CL, Sekhon GS, Francke U

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.

MeSH Terms
Adult Albinism, Oculocutaneous/genetics Alleles Arginine/genetics Blacks Blotting, Southern Codon Cysteine/genetics DNA/genetics Exons Homozygote Humans Male Monophenol Monooxygenase/genetics Mutation Nucleic Acid Hybridization Polymerase Chain Reaction Polymorphism, Genetic
Chemicals
Codon DNA Arginine Monophenol Monooxygenase Cysteine
Authors & Affiliations
5 authors, click to expand affiliations / ORCID
Spritz R A
Department of Medical Genetics, University of Wisconsin-Madison.
Strunk K M
Hsieh C L
Sekhon G S
Francke U
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Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
Published
1991-02-00
Pages
318-24
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1683030
Subset
IM
Grants
NIGMS NIH HHS · GM26105 · United States
External Links
PubMed source PMC Full Text View journal details
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