Mitochondrial DNA analysis in primary congenital glaucoma.

ABSTRACT:

Purpose

To screen mitochondrial DNA (mtDNA) for nucleotide variations in primary congenital glaucoma (PCG).

Methods

The entire coding region of the mitochondrial genome was amplified by polymerase chain reaction from 35 PCG patients and 40 controls. The full mtDNA genome except the D-loop was sequenced. All sequences were analyzed against mitochondrial reference sequence NC_012920.

Results

MtDNA sequencing revealed a total of 132 and 58 nucleotide variations in PCG and controls, respectively. Of 132 nucleotide variations, 42 (31.81%) were non-synonymous and 82 (62.12%) were synonymous changes, and 8 were in RNA genes. The highest number of nucleotide variations were recorded in complex I followed by complex IV, then complex V. Eight patients (22.85%) had potentially p

SUBMITTER: Tanwar M 

PROVIDER: S-EPMC2846849 | biostudies-literature | 2010 Mar

REPOSITORIES: biostudies-literature