title: The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2-q12.
abstract: Tyrosinase-positive oculocutaneous albinism (ty-pos OCA), an autosomal recessive disorder of the melanin biosynthetic pathway, is the most common type of albinism occurring worldwide. In southern African Bantu-speaking negroids it has an overall prevalence of about 1/3,900. Since the basic biochemical defect is unknown, a linkage study with candidate loci, candidate chromosomal regions, and random loci was undertaken. The ty-pos OCA locus was found to be linked to two arbitrary loci, D15S10 and D15S13, in the Prader-Willi/Angelman chromosomal region on chromosome 15q11.2-q12. The pink-eyed dilute locus, p, on mouse chromosome 7, maps close to a region of homology on human chromosome 15q, and we postulate that the ty-pos OCA and p loci are homologous.
authors.affiliation: Department of Human Genetics, School of Pathology, South African Institute for Medical Research, Johannesburg.
authors.forename: M
authors.initials: M
authors.lastname: Ramsay
authors.forename: M A
authors.initials: MA
authors.lastname: Colman
authors.forename: G
authors.initials: G
authors.lastname: Stevens
authors.forename: E
authors.initials: E
authors.lastname: Zwane
authors.forename: J
authors.initials: J
authors.lastname: Kromberg
authors.forename: M
authors.initials: M
authors.lastname: Farrall
authors.forename: T
authors.initials: T
authors.lastname: Jenkins
mesh_terms: D016115:Albinism, Oculocutaneous / Q000201:enzymology / Q000235:genetics*; D000818:Animals; D002871:Chromosome Banding; D002874:Chromosome Mapping; D002884:Chromosomes, Human, Pair 15; D004247:DNA / Q000235:genetics / Q000302:isolation & purification; D015342:DNA Probes; D008040:Genetic Linkage; D006801:Humans; D051379:Mice; D014442:Monophenol Monooxygenase / Q000235:genetics*; D016133:Polymerase Chain Reaction
chemical_list: D015342:DNA Probes; D004247:DNA; D014442:Monophenol Monooxygenase