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One-allele system in the Korean for MboⅠ-RFLP in exon 1 of the human tyrosinase (TYR) gene

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Affiliated Author(s)
최인장김대광
Alternative Author(s)
Choi, In JangKim, Dae Kwang
Journal Title
Journal of Dermatological Science
ISSN
0923-1811
Issued Date
2000
Keyword
AlbinismTyrosinaseMboI-RFLP
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.
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