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.