The EPHA2 gene is associated with cataracts linked to chromosome 1p.

ABSTRACT:

Purpose

Cataracts are a clinically and genetically heterogeneous disorder affecting the ocular lens, and the leading cause of treatable vision loss and blindness worldwide. Here we identify a novel gene linked with a rare autosomal dominant form of childhood cataracts segregating in a four generation pedigree, and further show that this gene is likely associated with much more common forms of age-related cataracts in a case-control cohort.

Methods

Genomic DNA was prepared from blood leukocytes, and genotyping was performed by means of single nucleotide polymorphism (SNP) markers, and short tandem repeat (STR) markers. Linkage analyses were performed with the GeneHunter and MLINK programs, and association analyses were performed with the Haploview and Exemplar programs. Mutat

SUBMITTER: Shiels A 

PROVIDER: S-EPMC2582197 | biostudies-literature | 2008

REPOSITORIES: biostudies-literature