title: One-allele system in the Korean for MboI-RFLP in exon 1 of the human tyrosinase (TYR) gene.
abstract: Oculocutaneous albinism is an autosomal recessive genetic disorder. Several types of oculocutaneous albinism are caused by mutation in related genes. Oculocutaneous albinism 1 is associated with the tyrosinase gene. The human tyrosinase gene (TYR) encodes tyrosinase, a key enzyme in melanin biosynthesis. As exon 1 of the gene shows an MboI-RFLP within codon 192 in Caucasians, we studied allele frequencies of MboI 192 polymorphism in 200 chromosomes from 100 unrelated normal Korean individuals. As a result, only one allele system, the presence of the MboI 192 site, was detected in the Korean.
authors.affiliation: Department of Anatomy, School of Medicine, Keimyung University, Dongsan-Dong, Jung-Gu, Taegu 700-712, South Korea. dkkim@dsmc.or.kr
authors.forename: D K
authors.initials: DK
authors.lastname: Kim
authors.forename: K H
authors.initials: KH
authors.lastname: Kang
authors.forename: I J
authors.initials: IJ
authors.lastname: Choi
mesh_terms: D016115:Albinism, Oculocutaneous / Q000235:genetics*; D000483:Alleles; D005091:Exons; D005787:Gene Frequency; D006801:Humans; D007723:Korea; D014442:Monophenol Monooxygenase / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D014442:Monophenol Monooxygenase