- Poster presentation
- Open Access
Comprehensive analysis of the molecular bases of OCA in Indians
© Ray et al; licensee BioMed Central Ltd. 2010
- Published: 11 October 2010
- Missense Mutation
- Functional Assay
- Classical Type
- Clinical Spectrum
OCA is a group of autosomal recessive disorders characterized by hypopigmentation and abnormalities related to ocular development. Mutations in genes regulating melanin-biosynthesis cause four classical types of OCA (OCA 1-4). The clinical spectrum of OCA often depends on the pigmentation threshold of a patient, highlighting the importance of ethnic- specific SNPs. We aimed to understand the molecular bases of OCA in India, where it is one of the four major causes of childhood blindness.
Blood samples were collected from OCA patients and family members, mostly from eastern and southern India. Seven pigmentation related genes were screened for variations. Relevant non-synonymous changes in tyrosinase (TYR) were functionally validated. Eighteen SNPs from three OCA genes were genotyped in 552 normal individuals covering various ethnic groups of India.
Our investigation suggests that ~58% of OCA in India belong to OCA1 category. ER retention is the major cause of lack of TYR activity in OCA1 patients. Information on allelic distribution of SNPs is important for cosegregation analysis of candidate genes in affected families.
SNP analysis in Indian population groups was done as part of a larger study to capture genomic variation among Indians by the Indian Genome Variation Consortium.
- Chaki M, Sengupta M, Mondal M, Bhattacharyya A, Mallick S, Bhadra R, Consortium Indian Genome Variation, Ray K: Molecular and functional studies on Tyrosinase among Indian Oculocutaneous Albinism type 1 (OCA1) patients. J Invest Dermatol. 2010.Google Scholar
- Sengupta M, Mondal M, Jaiswal P, Sinha S, Chaki M, Samanta S, Ray K: Comprehensive Analysis of the Molecular Basis of OCA in Indian Patients Lacking Mutation in Tyrosinase Gene. Br J Dermatol. 2010, -Epub ahead of print.Google Scholar
This article is published under license to BioMed Central Ltd.