Genetic analysis of oculocutaneous albinism type 1 (OCA1) inIndian families: two novel frameshift mutations in the TYR gene

摘要

Purpose: Oculocutaneous albinism type 1 (OCA1) patients demonstratea partial or total lack of melanin in the skin, hair and eye. OCA1 is anautosomal recessive genetic disorder caused by mutations in the TYRgene located at chromosome band 11q14-q25. The purpose of this study wasto carry out genetic analysis of OCA1 in Indian families.Methods: Genomic DNA was isolated from blood leukocytes of all theindividuals in this study. Haplotype analysis was performed at theTYR locus using informative microsatellite markers. Eight sets ofprimers were used to amplify the entire coding region of the TYRgene for bidirectional direct sequencing mutation analysis.Results: Two novel deletions (c.937del8, c.1379del2) and apreviously known nonsense mutation (R278X) in the TYR gene wereidentified from a total of 8 oculocutaneous albinism patients in India.Conclusions: Our study reports the distribution of two novelframeshift and a previously reported nonsense mutations in four OCA1families from the Indian population. These findings will contribute tothe development of a diagnostic method for OCA1 carrier status andgenetic counseling for OCA1 affected families.