Abstract
Purpose: :
Albinism is a group of genetic disorder, showing a broad phenotypic spectrum. The phenotype ranges from complete lack of pigmentation in the skin, hair and iris - Oculocutaneous Albinism (OCA) or lack of pigmentation in the iris alone - Ocular Albinism (OA). The phenotypic ranges of OCA and OA are depends on the candidate genes. Purpose of this study is to screen for mutations in all the known candidate genes of OCA and OA1 to identify the mutation in Indian patients showing the positive history of albinism.
Methods: :
Thirty six familial albinism patients from 23 genetically unrelated families were diagnosed by the standard methods of ophthalmologic views and investigated for the molecular genetic analysis of four classic OCA genes - TYR, P (OCA2), TYRP1, SLC45A2 (MATP) and OA1 gene - GPR143. The genomic DNA of 36 samples were subjected for bidirectional sequence analysis.
Results: :
Three missense mutations R239W, R299H, G419R and one termination R278X was identified in TYR gene. One novel mutation G485R was identified in P gene. Along with these mutations one novel SNP was identified in both, TYR and P gene and few reported SNPs were identified in TYR, TYRP1, MATP and GPR143 genes.
Conclusions: :
Despite the sequence analysis performed to all the five candidate genes, only four probands among 23 had (17.39%) mutations in TYR gene and two probands (8.69%) had a novel mutation in P gene. Our study reports will contribute to the development of mutation detection and early genetic counseling to the South Indian population.Key words: Albinism, OCA, OA, Gene, Mutation.
Keywords: gene screening • mutations • genetics