OBJECTIVE: To explore the patients' genotypes and the mutation spectrum of 
Tyrosinase (TYR) gene and the effects on protein structure and function in 
oculocutaneous albinism type 1 (OCA1).
METHODS: The polymerase chain reaction (PCR) and sequencing techniques were 
applied to amplify and analyze the regions of exon, exonintron and promoter of 
TYR gene of 15 OCA1 probands and some of their parents. The protein structure 
and function were forecasted and analyzed by bioinformatics software.
RESULTS: Sequencing result showed 11 kinds of mutations, including 5 missense 
mutations (W400L, R299H, E294K, R77Q and K142M), 3 nonsense mutations (R116X, 
R278X and G295X), 2 insertion mutation (929insC and 232insGGG) and 1 splice site 
mutation (IVS1-3C > G). The nosogenesis was related to the change of protein 
structure and function in four pathological mutations.
CONCLUSION: It seemes that W400L is the frequent mutations, which accounted for 
about 30.0% in Chinese mainland OCA1 alleles. It is doable to make some 
reasonable interpretation about TYR gene nosogenesis by bioinformatics method.