PAX6 gene analysis in irido-fundal coloboma.

ABSTRACT:

Purpose

To screen the paired box gene 6 (PAX6) gene in irido-fundal coloboma.

Methods

The entire coding region of PAX6 including intron-exon boundaries was amplified from cases (n=30) and controls (n=30). All sequences were analyzed against the ensemble sequence (ENSG00000007372) for PAX6.

Results

DNA sequence analysis of patients and controls revealed a total of three nucleotide changes (g.31815391Cytosine>Thymine; Glycine72Glycine and g.31812215Thymine>Guanine) of which one was neutral/synonymous change and the remaining two were intronic changes. Of these 3 changes, 2 were novel and one was already reported change. All these changes were non-pathogenic, according to in silico analysis.

Conclusions

In our study no pathogenic PAX6 mutation were identified. Thi

SUBMITTER: Kumar K 

PROVIDER: S-EPMC3108901 | biostudies-literature | 2011

REPOSITORIES: biostudies-literature