Molecular and structural analysis of genetic variations in congenital cataract.

ABSTRACT:

Objective

To determine the relative contributions of mutations in congenital cataract cases in an Indian population by systematic screening of genes associated with cataract.

Methods

We enrolled 100 congenital cataract cases presenting at the Dr. R. P. Centre for Ophthalmic Sciences, a tertiary research and referral hospital (AIIMS, New Delhi, India). Crystallin, alpha A (CRYAA), CRYAB, CRYGs, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, beaded filament structural protein 1 (BFSP1), gap function protein, alpha 3 (GJA3), GJA8, and heat shock transcription factor 4 gene genes were amplified. Protein structure differences analysis was performed using Discovery Studio (DS) 2.0.

Results

The mean age of the patients was 17.45±16.51 months, and the age of onset was 1.618±0.7181 m

SUBMITTER: Kumar M 

PROVIDER: S-EPMC3850972 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature