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

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 biosynth esis. As exon 1 of the gene shows an MboI-RFLP within codon 192 in Caucasia ns, we studied allele frequencies of MboI 192 polymorphism in 200 chromosom es from 100 unrelated normal Korean individuals. As a result, only one alle le system, the presence of the MboI 192 site, was detected in the Korean. ( C) 2000 Elsevier Science Ireland Ltd. All rights reserved.