MOLECULAR-BASIS OF OCULOCUTANEOUS ALBINISM

Oculocutaneous albinism (OCA) is a complex group of genetic disorders that have historically been defined by clinical and biochemical method s. Recent advances in the molecular biology of pigmentation have great ly increased our understanding of the complexity of this group of diso rders. To date, two different types of OCA(OCA1 and OCA2) have been ma pped to specific chromosomal regions. Mutations have been found in the tyrosinase locus associated with OCA1 and the human homologue to the murine pink-eyed dilution locus associated with OCA2. Analysis of thes e genes and their mutations will allow us to better define and categor ize the different types of albinism. Further, the analysis of these ge nes and their mutations will provide information on the role of these gene products in melanin biosynthesis and the effect specific mutation s have on the pathogenesis of albinism.