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 Han 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 three previously unidentified alleles (PUAs): one 
frameshift mutation (c.216delA) and two missense mutations (A241T and N364K). 
The proband mutation A241T carries 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.