Background: Neurological disorders are a highly heterogeneous group of pathological conditions that affect both the peripheral and the central nervous system. These pathologies are characterized by a complex and multifactorial etiology involving numerous environmental agents and genetic susceptibility factors. For this reason, the investigation of their pathogenetic basis by means of traditional methodological approaches is rather arduous. High-throughput genotyping technologies, including the microarray-based comparative genomic hybridization (aCGH), are currently replacing classical detection methods, providing powerful molecular tools to identify genomic unbalanced structural rearrangements and explore their role in the pathogenesis of many complex human diseases. Methods: In this report, we comprehensively describe the design method, the procedures, validation, and implementation of an exon-centric customized aCGH (NeuroArray 1.0), tailored to detect both single and multi-exon deletions or duplications in a large set of multi- and monogenic neurological diseases. This focused platform enables a targeted measurement of structural imbalances across the human genome, targeting the clinically relevant genes at exon-level resolution. Conclusion: An increasing use of the NeuroArray platform may offer new insights in investigating potential overlapping gene signatures among neurological conditions and defining genotype-phenotype relationships.

中文翻译：

---

NeuroArray：用于分析神经系统疾病拷贝数变异的定制 aCGH


背景：神经系统疾病是一组高度异质性的病理状况，同时影响周围和中枢神经系统。这些病理学的特点是复杂且多因素的病因学，涉及多种环境因素和遗传易感性因素。因此，通过传统的方法学方法对其发病机制的研究是相当艰巨的。高通量基因分型技术，包括基于微阵列的比较基因组杂交（aCGH），目前正在取代传统的检测方法，为识别基因组不平衡结构重排并探索其在许多复杂人类疾病发病机制中的作用提供了强大的分子工具。方法：在本报告中，我们全面描述了以外显子为中心的定制 aCGH (NeuroArray 1.0) 的设计方法、程序、验证和实施，该 aCGH 专为检测大量多外显子中的单外显子删除或重复而定制。 - 和单基因神经系统疾病。这个专注的平台能够有针对性地测量整个人类基因组的结构失衡，以外显子水平分辨率瞄准临床相关基因。结论：NeuroArray 平台的越来越多的使用可能为研究神经系统疾病之间潜在的重叠基因特征和定义基因型-表型关系提供新的见解。