Oculocutaneous albinism (OCA) is a heterogeneous autosomal recessive genetic 
disorder that affects melanin synthesis. OCA results in reduced or absent 
pigmentation in the hair, skin and eyes. Type 1 OCA (OCA1) is the result of 
tyrosinase (TYR) gene mutations and is a severe disease type. This study 
investigated TYR mutations in a Chinese cohort with OCA1. This study included 
two parts: patient genetic study and prenatal genetic diagnosis. A total of 30 
OCA1 patients were subjected to TYR gene mutation analysis. Ten pedigrees were 
included for prenatal genetic diagnosis. A total of 100 unrelated healthy 
Chinese individuals were genotyped for controls. The coding sequence and the 
intron/exon junctions of TYR were analysed by bidirectional DNA sequencing. In 
this study, 20 mutations were identified, four of which were novel. Of these 30 
OCA1 patients, 25 patients were TYR compound heterozygous; two patients carried 
homozygous TYR mutations; and three were heterozygous. Among the ten prenatally 
genotyped fetuses, three fetuses carried compound heterozygous mutations and 
seven carried no mutation or only one mutant allele of TYR and appeared normal 
at birth. In conclusion, we identified four novel TYR mutations and showed that 
molecular-based prenatal screening to detect TYR mutations in a fetus at risk 
for OCA1 provided essential information for genetic counselling of couples at 
risk.