Noncoding variation of the gene for ferritin light chain in hereditary and age-related cataract.

ABSTRACT:

Purpose

Cataract is a clinically and genetically heterogeneous disorder of the ocular lens and an important cause of visual impairment. The aim of this study was to map and identify the gene underlying autosomal dominant cataract segregating in a four-generation family, determine the lens expression profile of the identified gene, and test for its association with age-related cataract in a case-control cohort.

Methods

Genomic DNA was prepared from blood leukocytes, and genotyping was performed by means of single-nucleotide polymorphism markers and microsatellite markers. Linkage analyses were performed using the GeneHunter and MLINK programs, and mutation detection was achieved by dideoxy cycle sequencing. Lens expression studies were performed using reverse-transcription po

SUBMITTER: Bennett TM 

PROVIDER: S-EPMC3626299 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature