PURPOSE: Oculocutaneous albinism type 1 (OCA1) patients demonstrate a partial or 
total lack of melanin in the skin, hair and eye. OCA1 is an autosomal recessive 
genetic disorder caused by mutations in the TYR gene located at chromosome band 
11q14-q25. The purpose of this study was to carry out genetic analysis of OCA1 
in Indian families.
METHODS: Genomic DNA was isolated from blood leukocytes of all the individuals 
in this study. Haplotype analysis was performed at the TYR locus using 
informative microsatellite markers. Eight sets of primers were used to amplify 
the entire coding region of the TYR gene for bidirectional direct sequencing 
mutation analysis.
RESULTS: Two novel deletions (c.937del8, c.1379del2) and a previously known 
nonsense mutation (R278X) in the TYR gene were identified from a total of 8 
oculocutaneous albinism patients in India.
CONCLUSIONS: Our study reports the distribution of two novel frameshift and a 
previously reported nonsense mutations in four OCA1 families from the Indian 
population. These findings will contribute to the development of a diagnostic 
method for OCA1 carrier status and genetic counseling for OCA1 affected 
families.