Analysis of mitochondrial DNA variations in Indian patients with congenital cataract.

ABSTRACT:

Purpose

Identification of mitochondrial DNA (mtDNA) variations in the inherited cataract patients from south India.

Methods

Three families with inherited cataract of maternal origin were evaluated. Clinical and ophthalmologic examinations were performed on available affected as well as unaffected family members. Samples of mtDNA were amplified using 24 pairs of overlapping primers to analyze the entire mitochondrial genome to screen for variations and analyzed for both coding and non-coding regions. Bioinformatic analysis was performed to evaluate the effect of nucleotide variations.

Results

DNA sequence analysis of inherited cataract families showed 72 nucleotide variations, of which 15 were observed in the major non-coding D-loop region, 3 in the tRNA genes, 5 in th

SUBMITTER: Roshan M 

PROVIDER: S-EPMC3272057 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature