title: Prevalent and novel mutations of the tyrosinase gene in Korean patients with tyrosinase-deficient oculocutaneous albinism.
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.
authors.affiliation: Department of Biochemistry, College of Science, Seoul, Korea.
authors.forename: S K
authors.initials: SK
authors.lastname: Park
authors.forename: K H
authors.initials: KH
authors.lastname: Lee
authors.forename: K C
authors.initials: KC
authors.lastname: Park
authors.forename: J S
authors.initials: JS
authors.lastname: Lee
authors.forename: R A
authors.initials: RA
authors.lastname: Spritz
authors.forename: S T
authors.initials: ST
authors.lastname: Lee
mesh_terms: D000328:Adult; D016115:Albinism, Oculocutaneous / Q000201:enzymology* / Q000235:genetics*; D000595:Amino Acid Sequence; D001483:Base Sequence; D002675:Child, Preschool; D017931:DNA Primers / Q000235:genetics; D005091:Exons; D005260:Female; D016368:Frameshift Mutation; D005817:Genetic Counseling; D006801:Humans; D007723:Korea; D008297:Male; D014442:Monophenol Monooxygenase / Q000172:deficiency* / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic
chemical_list: D017931:DNA Primers; D014442:Monophenol Monooxygenase