Investigation of VSX1 sequence variants in South Indian patients with sporadic cases of keratoconus.

ABSTRACT:

Background

The involvement of VSX1 gene for the genetic basis of keratoconus is unclear and controversial. The genetic screening of VSX1 from different ethnic populations can enlighten this subject. The aim of the present study is to investigate the role of VSX1 gene in patients with sporadic cases of keratoconus from South India.

Methods

The VSX1 gene coding regions, including exon-intron boundaries were screened by direct sequencing analysis in 117 sporadic cases of keratoconus. The identified variations were also analyzed in 108 ethnic matched healthy blood donors.

Results

In the VSX1 gene screening, no pathogenic mutation was identified, whereas we could find the presence of four reported single nucleotide polymorphisms; c.546A>G (rs12480307), c.627+23G>A (rs61384

SUBMITTER: Verma A 

PROVIDER: S-EPMC3608990 | biostudies-literature | 2013 Mar

REPOSITORIES: biostudies-literature