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KMID : 0578319970070020187
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Molecules and Cells
1997 Volume.7 No. 2 p.187 ~ p.191
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Pevalent and Novel Mutations of the Tyrosinase Gene in Korean Patients with Tyrosinase-deficient Oculocutaneous albinism
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Park, Snag-Kyu
Lee, Kyoung-Hwa/Park, Kyung-Chan/Lee,Jin-Sung/Spritz, Richard A./Lee, Seung-Ta다
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Abstract
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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.
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KEYWORD
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