Molecular basis of oculocutaneous albinism

Abstract

Oculocutaneous albinism (OCA) is a complex group of genetic disorders that have historically been defined by clinical and biochemical methods. Recent advances in the molecular biology of pigmentation have greatly increased our understanding of the complexity of this group of disorders. To date, two different types of OCA (OCA1 and OCA2) have been mapped 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 these genes and their mutations will allow us to better define and categorize the different types of albinism. Further, the analysis of these genes and their mutations will provide information on the role of these gene products in melanin biosynthesis and the effect specific mutations have on the pathogenesis of albinism.