The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2-q12

Am J Hum Genet. 1992 Oct;51(4):879-84.


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.

Publication types

  • Comparative Study

MeSH terms

  • Albinism, Oculocutaneous / enzymology
  • Albinism, Oculocutaneous / genetics*
  • Animals
  • Chromosome Banding
  • Chromosome Mapping
  • Chromosomes, Human, Pair 15*
  • DNA / genetics
  • DNA / isolation & purification
  • DNA Probes
  • Genetic Linkage
  • Humans
  • Mice
  • Monophenol Monooxygenase / genetics*
  • Polymerase Chain Reaction


  • DNA Probes
  • DNA
  • Monophenol Monooxygenase