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

Journal Article · Fri Jan 01 04:00:00 EST 1993 · American Journal of Human Genetics; (United States)

OSTI ID:6596728

Oetting, W S; Witkop, Jr, C J; Brown, S A; Fryer, J P; Bloom, K E; King, R A ^[1]; Colomer, R ^[2]

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1. Univ. of Minnesota, Minneapolis (United States)
2. Servicio Medico de Empressa de la ONCE, Canary Islands (Spain)

The authors 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. 28 refs., 1 fig., 3 tabs.

• OSTI ID: 6596728
• Journal Information: American Journal of Human Genetics; (United States), Journal Name: American Journal of Human Genetics; (United States) Vol. 52:1; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
CANARY ISLANDS
DETECTION
DEVELOPED COUNTRIES
DEVELOPING COUNTRIES
ENZYMES
EUROPE
GENE MUTATIONS
GREATER ANTILLES
HUMAN POPULATIONS
HYDROXYLASES
ISLANDS
LATIN AMERICA
MIGRATION
MUTATIONS
NORTH AMERICA
ORGANIC COMPOUNDS
OXIDOREDUCTASES
POPULATIONS
PROTEINS
PUERTO RICO
RECOMBINATION
RFLPS
SPAIN
TYROSINASE
USA
WEST INDIES