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High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy
Jin Song1, Nizar Smaoui, Radha Ayyagari
1Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, 10 Center Drive, Bethesda,MD 20892, USA.
Investigative Ophthalmology & Visual Science
|October 26, 2011
Summary
A new microarray system, Retina-Array, offers a faster and more cost-effective method for identifying genetic mutations in inherited retinal dystrophy (RD). This high-throughput resequencing tool aids in diagnosing complex genetic eye diseases.
Area of Science:
- Genetics
- Ophthalmology
- Molecular Biology
Background:
- Inherited retinal dystrophy (RD) encompasses diverse genetic disorders with complex diagnostic challenges.
- Current genetic testing for RD is often cumbersome, time-consuming, and expensive.
Purpose of the Study:
- To develop and validate a microarray-based, high-throughput resequencing system for detecting sequence alterations in inherited RD-related genes.
Main Methods:
- Development of a customized 300-kb resequencing chip (Retina-Array) targeting 93 RD-associated genes.
- Evaluation using 19 patient samples and 4 reference samples with automated PCR, optimized processing, and standardized chip procedures.
Main Results:
- Retina-Array achieved an average base pair call rate of 93.56% and accuracy of 99.86%.
- Identified 304 candidate variations, with 123 confirmed by dideoxy sequencing.
- Detected 10 known mutations and 12 novel variations in patient samples.
Conclusions:
- Retina-Array serves as a valuable tool for simultaneous detection of disease-causing mutations and severity modifiers in inherited retinal diseases.
- This approach offers a powerful and feasible method for investigating the genetic heterogeneity of retinal disorders.
