A frequent tyrosinase gene mutation associated with type I-A (tyrosinase-negative) oculocutaneous albinism in Puerto Rico

We have determined the mutations in the tyrosinase gene from 12 unrelated Puerto Rican individuals who have type I-A (tyrosinase-negative) oculocutaneous albinism (OCA). All but one individual are of Hispanic descent. Nine individuals were homozygous for a missense mutation (G47D) in exon I at codon...

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Bibliographic Details
Published in:American journal of human genetics 1993, Vol.52 (1), p.17-23
Main Authors: OETTING, W. S, WITKOP, C. J, BROWN, S. A, COLOMER, R, FRYER, J. P, BLOOM, K. E, KING, R. A
Format: Article
Language:English
Subjects:
albinism
Albinism, Oculocutaneous - enzymology
Albinism, Oculocutaneous - genetics
Base Sequence
BASIC BIOLOGICAL SCIENCES
Biological and medical sciences
CANARY ISLANDS
catechol oxidase
DETECTION
DEVELOPED COUNTRIES
DEVELOPING COUNTRIES
DNA
ENZYMES
Errors of metabolism
EUROPE
Female
Gene Frequency
GENE MUTATIONS
genes
GREATER ANTILLES
Haplotypes
Heterozygote
Homozygote
HUMAN POPULATIONS
Humans
HYDROXYLASES
ISLANDS
LATIN AMERICA
Male
man
Medical sciences
Metabolic diseases
MIGRATION
Miscellaneous hereditary metabolic disorders
missense mutant
Molecular Sequence Data
Monophenol Monooxygenase - genetics
Mutation
MUTATIONS
NORTH AMERICA
ORGANIC COMPOUNDS
OXIDOREDUCTASES
POPULATIONS
PROTEINS
PUERTO RICO
RECOMBINATION
RFLPS
SPAIN
TYROSINASE
USA
WEST INDIES 550400 > Genetics
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Summary:We have determined the mutations in the tyrosinase gene from 12 unrelated Puerto Rican individuals who have type I-A (tyrosinase-negative) oculocutaneous albinism (OCA). All but one individual are of Hispanic descent. Nine individuals were homozygous for a missense mutation (G47D) in exon I at codon 47. Two individuals were heterozygous for the G47D mutation, with one having a missense mutation at codon 373 (T373K) in the homologous allele and the other having an undetermined mutation in the homologous allele. One individual with negroid features was homozygous for a nonsense mutation (W236X). The population migration between Puerto Rico and the Canary Islands is well recognized. Analysis of three individuals with OCA from the Canary Islands showed that one was a compound heterozygote for the G47D mutation and for a novel missense mutation (L216M), one was homozygous for a missense mutation (P81L), and one was heterozygous for the missense mutation P81L. The G47D and P81L missense mutations have been previously described in extended families in the United States. Haplotypes were determined using four polymorphisms linked to the tyrosinase locus. Haplotype analysis showed that the G47D mutation occurred on a single haplotype, consistent with a common founder for all individuals having this mutation. Two different haplotypes were found associated with the P81L mutation, suggesting that this may be either a recurring mutation for the tyrosinase gene or a recombination between haplotypes.
ISSN:0002-9297
1537-6605