Genome-wide linkage scan in fuchs endothelial corneal dystrophy.

ABSTRACT:

Purpose

To perform a genome-wide linkage screen with a single-nucleotide polymorphism (SNP) linkage panel to identify regions of genetic linkage in Fuchs endothelial corneal dystrophy (FECD) and to analyze affected individuals for mutations in the COL8A2 gene.

Methods

Ninety-two individuals from 22 families with FECD were identified from our multiplex FECD family cohort. A genome-wide linkage scan was performed using an SNP linkage panel. Parametric two-point linkage analyses were calculated and nonparametric multipoint linkage analyses were performed on chromosomes with two-point LOD scores (HLOD) > 1.0. All affected individuals were analyzed for the two previously reported FECD mutations in the COL8A2 gene (L450W and Q455K).

Results

The genome-wide analysis identifi

SUBMITTER: Afshari NA 

PROVIDER: S-EPMC2712757 | biostudies-literature | 2009 Mar

REPOSITORIES: biostudies-literature