Background: Copy Number Variants (CNVs) represent a prevailing type of structural
variation (deletions or duplications) in the human genome. In the last few years, several studies have
demonstrated that CNVs represent significant mutations in Alzheimer's Disease (AD) hereditability.
Currently, innovative high-throughput platforms and bioinformatics algorithms are spreading to
screening CNVs involved in different neurological diseases. In particular, the use of custom arrays,
based on libraries of probes that can detect significant genomic regions, have greatly improved the
resolution of targeted regions and the identification of chromosomal aberrations.
Objective: In this work, we report the use of NeuroArray, a custom CGH microarray useful to screening
and further investigate the role of the recurring genomic aberrations in patients with confirmed or
Methods: The custom oligonucleotide aCGH design includes 641 genes and 9118 exons, linked to
AD. The genomic DNA was isolated from blood samples of AD affected patients. The entire protocol
of custom NeuroArray included digestion, labelling and hybridization steps as a standard aCGH assay.
Results: The NeuroArray analysis revealed the presence of amplifications in several genes associated
with AD. In the coding regions of these genes, 14,586 probes were designed with a 348 bp median
probe spacing. The majority of targeted AD genes map on chromosomes 1 and 10. A significant aspect
of the NeuroArray design is that 95% of the total exon targets is covered by at least one probe, a
resolution higher than CGH array platforms commercially available.
Conclusion: By identifying with a high sensitivity the chromosomal abnormalities in a large panel of
AD-related genes and other neurological diseases, the NeuroArray platform is a valid tool for clinical