Prevalent and Novel Mutations of the Tyrosinase Gene in Korean Patients with Tyrosinase-deficient Oculocutaneous Albinism

Sang Kyu Park, Kyoung Hwa Lee, Kyung Chan Park, Jin Sung Lee, Richard A. Spritz, Seung Taek Lee

Research output: Contribution to journalArticle

16 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)187-191
Number of pages5
JournalMolecules and Cells
Volume7
Issue number2
Publication statusPublished - 1997 Apr 30

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Oculocutaneous Albinism
Monophenol Monooxygenase
Mutation
Genes
Frameshift Mutation
Genetic Counseling
Gene Frequency
Phenotype

All Science Journal Classification (ASJC) codes

  • Molecular Biology
  • Cell Biology

Cite this

Park, Sang Kyu ; Lee, Kyoung Hwa ; Park, Kyung Chan ; Lee, Jin Sung ; Spritz, Richard A. ; Lee, Seung Taek. / Prevalent and Novel Mutations of the Tyrosinase Gene in Korean Patients with Tyrosinase-deficient Oculocutaneous Albinism. In: Molecules and Cells. 1997 ; Vol. 7, No. 2. pp. 187-191.
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Prevalent and Novel Mutations of the Tyrosinase Gene in Korean Patients with Tyrosinase-deficient Oculocutaneous Albinism. / Park, Sang Kyu; Lee, Kyoung Hwa; Park, Kyung Chan; Lee, Jin Sung; Spritz, Richard A.; Lee, Seung Taek.

In: Molecules and Cells, Vol. 7, No. 2, 30.04.1997, p. 187-191.

Research output: Contribution to journalArticle

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