Brown oculocutaneous albinism is allelic to tyrosinase-positive oculocutaneous albinism in southern African Negroids

Journal Article · Thu Sep 01 04:00:00 EDT 1994 · American Journal of Human Genetics

OSTI ID:134067

Manga, P; Ramsay, M; Kromberg, J; Jenkins, T ^[1]

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1. Univ. of the Witwatersrand, Johannesburg (South Africa)

Brown oculocutaneous albinism (BOCA) is an autosomal recessive disorder involving a decrease in pigment of the skin, hair and eyes as well as decreased visual acuity. Evidence from two families who have co-existent BOCA and tyrosinase-positive oculocutaneous albinism (ty-pos OCA), suggests that the two conditions are allelic. Ty-pos OCA has been mapped to chromosome 15q11-q12 and the gene has been confirmed to be the human homologue (P) of the mouse pink-eyed dilute gene (p). Seven markers known to be linked to the P gene, D15S11, D15S10, MS14, GABA3, GABA5, IR10 and pCMW-1, were used to construct haplotypes in 5 families with BOCA. The haplotype data was subjected to linkage analysis and a maximum lod score of 2.85 ({theta} 0.0) was obtained. It has been reported previously that BOCA, in an Afro-American, was due to the lack of tyrosinase-protein 1 (Trp-1) in melanocytes. Trp-1 has been excluded as the disease-causing locus in the southern African families by linkage analysis with D9S43. A lod score of -2.02 was obtained at {theta} = 0.02.

• OSTI ID: 134067
• Report Number(s): CONF-941009--
• Journal Information: American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: Suppl.3 Vol. 55; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
AFRICA
BIOLOGICAL MARKERS
GENE MUTATIONS
GENES
GENETIC MAPPING
HEREDITARY DISEASES
HUMAN CHROMOSOME 15
PATIENTS
RECESSIVE MUTATIONS
SKIN DISEASES
STATISTICS
TYROSINASE