BACKGROUND: The mutation of the tyrosinase (TYR) gene results in oculocutaneous 
albinism type 1 (OCA1), an autosomal recessive genetic disorder. OCA1 is the 
most common type of OCA in the Chinese population. Hence, the TYR gene was 
tested in this study. We also delineated the genetic analysis of OCA1 in a 
Chinese family.
METHODS: Genomic DNA was isolated from the blood leukocytes of a proband and his 
family. Mutational analysis at the TYR locus by DNA sequencing was used to 
screen five exons, including the intron/exon junctions. A pedigree chart was 
drawn and the fundus of the eyes of the proband was also examined.
RESULTS: A novel missense mutation p.I151S on exon 1, and homozygous TYR mutant 
alleles were identified in the proband. None of the mutants was identified among 
the 100 normal control subjects. Genetic analysis of the proband's wife showed 
normal alleles in the TYR gene. Thus, the fetus was predicated a carrier of OCA1 
with a normal appearance.
CONCLUSION: This study provided new information about a novel mutation, p.I151S, 
in the TYR gene in a Chinese family with OCA1. Further investigation of the 
proband would be helpful to determine the effects of this mutation on TYR 
activity.