The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2-q12.
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.
Ramsay
M
M
Department of Human Genetics, School of Pathology, South African Institute for Medical Research, Johannesburg.
Colman
M A
MA
Stevens
G
G
Zwane
E
E
Kromberg
J
J
Farrall
M
M
Jenkins
T
T
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
D015342:DNA Probes; D004247:DNA; D014442:Monophenol Monooxygenase