Prevalent and novel mutations of the tyrosinase gene in Korean patients with tyrosinase-deficient oculocutaneous albinism

Mol Cells. 1997 Apr 30;7(2):187-91.

Abstract

We analyzed the tyrosinase (TYR) gene of 12 Korean patients with various types of oculocutaneous albinism (OCA). We identified five different mutations in the TYR gene in 4 patients with severe OCA and in 2 patients with mild OCA, but found no mutations in the 6 patients with mild OCA phenotypes. Among the 5 mutations, a frameshift mutation, P310insC, was detected most frequently (allele frequency = 0.5), and the other mutations were found less frequently, two of which, L288delT and IVS2-7t-->a,-10(-)-11deltt, are novel. This study may provide valuable information for the molecular diagnosis of and accurate genetic counseling for OCA1 in Koreans and perhaps other Asian groups.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Albinism, Oculocutaneous / enzymology*
  • Albinism, Oculocutaneous / genetics*
  • Amino Acid Sequence
  • Base Sequence
  • Child, Preschool
  • DNA Primers / genetics
  • Exons
  • Female
  • Frameshift Mutation
  • Genetic Counseling
  • Humans
  • Korea
  • Male
  • Monophenol Monooxygenase / deficiency*
  • Monophenol Monooxygenase / genetics*
  • Mutation*
  • Phenotype
  • Polymerase Chain Reaction
  • Polymorphism, Genetic

Substances

  • DNA Primers
  • Monophenol Monooxygenase