BACKGROUND: Oculocutaneous albinism type II (OCA2) is an autosomal recessively 
inherited disorder, characterized by white hair and skin, and loss of pigment in 
the eyes. Mutations in P gene have been shown to result in OCA2. So far, two 
cases have been reported from Japan.
OBJECTIVE: We had an opportunity to examine a case of albinism, and screened the 
mutations of tyrosinase and P gene.
METHODS: Genomic DNA was prepared from peripheral leukocytes. All of the exons 
and flanking introns of tyrosinase and P gene were PCR-direct-sequenced.
RESULTS: Although no mutations were found in tyrosinase, we found two missense 
substitutions, A481T and Q799H in P gene. The A481T has previously been shown to 
result in partial function of the P protein.
CONCLUSION: The Q799H mutation is not a common polymorphism among normal 
Japanese, seems most likely to be a pathological OCA2 mutation among Japanese 
with this form of albinism.