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

Authors
 Sang-Kyu Park  ;  Kyoung-Hwa Lee  ;  Kyung-Chan Park  ;  Jin-Sung Lee  ;  Richard A. Spritz  ;  Seung-Taek Lee 
Citation
 MOLECULES AND CELLS, Vol.7(2) : 187-191, 1997 
Journal Title
 MOLECULES AND CELLS 
ISSN
 1016-8478 
Issue Date
1997
MeSH
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
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.
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Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers
Yonsei Authors
Lee, Jin-Sung(이진성) ORCID logo https://orcid.org/0000-0002-1262-8597
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/177382
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