Document Detail


Molecular basis of type I (tyrosinase-related) oculocutaneous albinism: mutations and polymorphisms of the human tyrosinase gene.
MedLine Citation:
PMID:  8477259     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Type I (tyrosinase related) oculocutaneous albinism (OCA) results from mutations of the tyrosinase gene on chromosome 11q that lead to reduced or absent melanin pigment synthesis. The phenotype of Type I OCA is broad, ranging from a total lack to only a moderate reduction of melanin, and the phenotypic variation is associated with different mutant alleles at the tyrosinase locus. A total of 36 mutations have been identified in Type I OCA including 24 missense, 4 nonsense, and 8 frameshift mutations. The majority of affected individuals have been compound heterozygotes with different maternal and paternal alleles. Six polymorphic sites for haplotype analysis have been identified in the tyrosinase gene including 2 in the promoter region, 2 in the coding region associated with alternative amino acids in the protein, and 2 RFLPs in the first intron.
Authors:
W S Oetting; R A King
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Publication Detail:
Type:  Journal Article; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Human mutation     Volume:  2     ISSN:  1059-7794     ISO Abbreviation:  Hum. Mutat.     Publication Date:  1993  
Date Detail:
Created Date:  1993-05-21     Completed Date:  1993-05-21     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  9215429     Medline TA:  Hum Mutat     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  1-6     Citation Subset:  IM    
Affiliation:
Department of Medicine, University of Minnesota, Minneapolis 55455.
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MeSH Terms
Descriptor/Qualifier:
Albinism, Oculocutaneous / diagnosis,  genetics*,  physiopathology
DNA Mutational Analysis
Humans
Monophenol Monooxygenase / genetics*
Mutation*
Phenotype
Polymorphism, Genetic*
Grant Support
ID/Acronym/Agency:
AR40001/AR/NIAMS NIH HHS; GM22167/GM/NIGMS NIH HHS
Chemical
Reg. No./Substance:
EC 1.14.18.1/Monophenol Monooxygenase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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