Background: Oculocutaneous albinism (OCA) is a congenital genetic disorder characterized by defects in melanin production.OCA type 1 (OCA1) is the most serious and common type of OCA.This study characterized mutations associated with OCA1 in a series of Chinese patients.Methods: We recruited 41 unrelated patients with OCA and 100 healthy subjects from the Chinese population.Genomic DNA was extracted from their blood samples.Mutational analysis of tyrosinase (TYR) genes was conducted using polymerase chain reaction (PCR) and direct sequencing,specifically to test the 100 control subjects and exclude the possibility of polymorphism.Mutational analysis and bioinformatics study were performed in TYR mutations.Results: Among the 24 (58.5%) patients with OCA1,21 different TYR mutations were identified,including four novel ones: one frameshift mutation (c.261delA),and three missense mutations (I151S,A241T and N354K).The proband mutation A241T is the rarest of three possible mutations in complex OCA.Conclusion: The findings of this study expand current knowledge and data of mutations associated with OCA1 in China and allow us to estimate or explore the mutation spectrum and relative frequencies of the TYR gene in the Chinese population.