Microarray-based mutation detection and phenotypic characterization in Korean patients with retinitis pigmentosa.

ABSTRACT:

Purpose

To evaluate microarray-based genotyping technology for the detection of mutations responsible for retinitis pigmentosa (RP) and to perform phenotypic characterization of patients with pathogenic mutations.

Methods

DNA from 336 patients with RP and 360 controls was analyzed using the GoldenGate assay with microbeads containing 95 previously reported disease-associated mutations from 28 RP genes. Mutations identified by microarray-based genotyping were confirmed by direct sequencing. Segregation analysis and phenotypic characterization were performed in patients with mutations. The disease severity was assessed by visual acuity, electroretinography, optical coherence tomography, and kinetic perimetry.

Results

Ten RP-related mutations of five RP genes (PRP3 pre-m

SUBMITTER: Kim C 

PROVIDER: S-EPMC3462597 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature