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

M Ramsay, MA Colman, G Stevens… - American journal of …, 1992 - ncbi.nlm.nih.gov
M Ramsay, MA Colman, G Stevens, E Zwane, J Kromberg, M Farrall, T Jenkins
American journal of human genetics, 1992ncbi.nlm.nih.gov
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 …
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.
ncbi.nlm.nih.gov