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NeuroArray, A Custom CGH Microarray to Decipher Copy Number Variants in Alzheimer's Disease.
Denis Cuccaro1, Maria Guarnaccia1, Rosario Iemmolo1
11Institute of Neurological Sciences, National Research Council, Section of Catania, Catania, Italy; 2Section of Human Anatomy and Histology, Department of Biomedical and Biotechnological Sciences, University of Catania, Catania, Italy.
Current Genomics
|September 28, 2018
Summary
Copy Number Variants (CNVs) are significant in Alzheimer's Disease (AD) heritability. NeuroArray, a custom CGH microarray, effectively screens for genomic aberrations in AD patients, aiding clinical diagnosis.
Area of Science:
- Genomics
- Neuroscience
- Medical Diagnostics
Background:
- Copy Number Variants (CNVs) are common structural variations in the human genome.
- CNVs are increasingly recognized as significant mutations contributing to Alzheimer's Disease (AD) heritability.
- High-throughput platforms and bioinformatics tools are advancing the screening of CNVs in neurological diseases.
Purpose of the Study:
- To report the utility of NeuroArray, a custom comparative genomic hybridization (CGH) microarray.
- To screen for and investigate the role of recurrent genomic aberrations in patients with confirmed or suspected Alzheimer's Disease (AD).
Main Methods:
- Utilized a custom oligonucleotide array CGH (aCGH) design targeting 641 AD-related genes and 9118 exons.
- Isolated genomic DNA from blood samples of AD-affected patients.
- Performed standard aCGH assay steps: digestion, labeling, and hybridization using the NeuroArray platform.
Main Results:
- NeuroArray analysis identified amplifications in several AD-associated genes.
- The platform employed 14,586 probes targeting coding regions, with a median probe spacing of 348 bp.
- Achieved high resolution, covering 95% of total exon targets, surpassing commercially available CGH arrays.
Conclusions:
- NeuroArray demonstrates high sensitivity in identifying chromosomal abnormalities within a large panel of AD-related genes.
- The platform is a valuable tool for the clinical diagnosis of Alzheimer's Disease and other neurological conditions.
- This custom microarray facilitates further investigation into the role of genomic aberrations in neurological diseases.