Genetic analysis of patients with Fuchs endothelial corneal dystrophy in India.

ABSTRACT:

Background

Mutations in COL8A2 gene which encodes the collagen alpha-2 (VIII) chain have been identified in both familial and sporadic cases of Fuchs endothelial corneal dystrophy (FECD). Heterozygous mutations in the SLC4A11 gene are also known to cause late-onset FECD. Therefore we screened for COL8A2, SLC4A11 gene variants in Indian FECD patients.

Methods

Eighty patients with clinically diagnosed FECD and 100 age matched normal individuals were recruited. Genomic DNA was isolated from peripheral blood leukocytes. Mutations in COL8A2, SLC4A11 coding regions were screened using bi-directional sequencing. Fischer's exact test or Pearson's chi squared test were used to predict the statistical association of genotypes with the phenotype.

Results

Screening of COL8A2 gene

SUBMITTER: Hemadevi B 

PROVIDER: S-EPMC2834660 | biostudies-literature | 2010 Feb

REPOSITORIES: biostudies-literature