Genotyping microarray: mutation screening in Spanish families with autosomal dominant retinitis pigmentosa.

ABSTRACT:

Purpose

Presently, 22 genes have been described in association with autosomal dominant retinitis pigmentosa (adRP); however, they explain only 50% of all cases, making genetic diagnosis of this disease difficult and costly. The aim of this study was to evaluate a specific genotyping microarray for its application to the molecular diagnosis of adRP in Spanish patients.

Methods

We analyzed 139 unrelated Spanish families with adRP. Samples were studied by using a genotyping microarray (adRP). All mutations found were further confirmed with automatic sequencing. Rhodopsin (RHO) sequencing was performed in all negative samples for the genotyping microarray.

Results

The adRP genotyping microarray detected the mutation associated with the disease in 20 of the 139 families wi

SUBMITTER: Blanco-Kelly F 

PROVIDER: S-EPMC3380913 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature