BACKGROUND: Oculocutaneous albinism type1 (OCA1) is characterized by the absence 
of melanin pigmentation. The mutation on TYR gene makes OCA1 as an autosomal 
recessive genetic disorder. In this study, we delineated the genetic analysis of 
an Iranian family with four members affected with OCA1.
METHODS: Clinical exams and paraclinical test were performed for all patients of 
the case family, also proband, her husband, and her parents. Pedigree chart was 
drawn too. We extracted the genomic DNA from the leukocytes of seven members of 
the family. Haplotype analysis at the TYR locus was done and informative 
microsatellite markers were employed. In order to amplify the entire coding 
region of the TYR gene, for bidirectional direct sequencing mutation analysis, 
eight sets of primers were used.
RESULTS: Our patients were diagnosed as affected with Oculocutaneous albinism 
type1a. Analysis of pedigree pattern showed an autosomal recessive inheritance. 
Analysis with different markers in chromosomes 5, 6, 9, 11 and 15 showed that 
cause of albinism in our case family was on chromosome 11 (D11S1887 marker was 
informative).
CONCLUSIONS: The results offered a more developed method of diagnosis for OCA1 
carrier identification and genetic counseling for OCA1 affected families as 
well; also submit a sample of mutation involved with oculocutaneous albinism in 
Iran. Genetic analysis is necessary for determining the type of albinism in an 
individual patient.