One-allele system in the Korean for MboⅠ-RFLP in exon 1 of the human tyrosinase (TYR) gene
- Affiliated Author(s)
- 최인장; 김대광
- Alternative Author(s)
- Choi, In Jang; Kim, Dae Kwang
- Journal Title
- Journal of Dermatological Science
- ISSN
- 0923-1811
- Issued Date
- 2000
- Keyword
- Albinism; Tyrosinase; MboI-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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