Oculocutaneous albinism and analysis of tyrosinase gene in Japanese patients

Nagoya J Med Sci. 1998 Oct;61(3-4):97-102.

Abstract

Oculocutaneous albinism (OCA) is a heterogeneous groups of autosomal-recessive genetic disorders. The molecular pathogenesis of several types of OCA have been clarified in the ten years since our first report in 1989 on a pathologic mutation of the tyrosinase gene. In this article, a new classification of OCA based on genetic evidence is briefly reviewed, and our study on Japanese patients with tyrosinase-negative OCA is summarized.

Publication types

  • Review

MeSH terms

  • Albinism, Oculocutaneous / genetics*
  • Asian People / genetics*
  • Female
  • Humans
  • Japan
  • Male
  • Monophenol Monooxygenase / genetics*

Substances

  • Monophenol Monooxygenase