The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2-q12 - PubMed (original) (raw)

Comparative Study

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

M Ramsay et al. Am J Hum Genet. 1992 Oct.

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.

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