A novel P gene missense mutation in a Japanese patient with oculocutaneous albinism type II (OCA2).
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.


CONCLUSIONS
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.
Kato
Atsushi
A
Department of Dermatology, Osaka City University Graduate School of Medicine, 1-4-3, Asahimachi Abenoku, Osaka 545-8585, Japan.
Fukai
Kazuyoshi
K
Oiso
Naoki
N
Hosomi
Naoko
N
Saitoh
Shinji
S
Wada
Takahito
T
Shimizu
Hiroshi
H
Ishii
Masamitsu
M
D016115:Albinism, Oculocutaneous / Q000235:genetics*; D019943:Amino Acid Substitution; D044466:Asian People; D002352:Carrier Proteins / Q000235:genetics*; D002675:Child, Preschool; D005091:Exons; D005260:Female; D006579:Heterozygote; D006801:Humans; D007564:Japan; D008565:Membrane Proteins / Q000235:genetics*; D026901:Membrane Transport Proteins; D014442:Monophenol Monooxygenase / Q000235:genetics*; D020125:Mutation, Missense
D002352:Carrier Proteins; D008565:Membrane Proteins; D026901:Membrane Transport Proteins; C489600:OCA2 protein, human; D014442:Monophenol Monooxygenase