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. (
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