Knight S J L, Regan R
Oxford Genetics Knowledge Park, Wellcome Trust Centre for Human Genetics, University of Oxford, UK.
Cytogenet Genome Res. 2006;115(3-4):215-24. doi: 10.1159/000095917.
Learning disability (LD) is a very common, lifelong and disabling condition, affecting about 3% of the population. Despite this, it is only over the past 10-15 years that major progress has been made towards understanding the origins of LD. In particular, genetics driven advances in technology have led to the unequivocal demonstration of the importance of genome imbalance in the aetiology of idiopathic LD (ILD). In this review we provide an overview of these advances, discussing technologies such as multi-telomere FISH and array CGH that have already emerged as well as new approaches that show diagnostic potential for the future. The advances to date have highlighted new considerations such as copy number polymorphisms (CNPs) that can complicate the interpretation of genome imbalance and its relevance to ILD. More importantly though, they have provided a remarkable approximately 15-20% improvement in diagnostic capability as well as facilitating genotype/phenotype correlations and providing new avenues for the identification and understanding of genes involved in neurocognitive function.
学习障碍（LD）是一种非常常见的、终身的致残性疾病，影响着约3%的人口。尽管如此，直到过去10 - 15年，在理解学习障碍的起源方面才取得了重大进展。特别是，由遗传学推动的技术进步已明确证明基因组失衡在特发性学习障碍（ILD）病因学中的重要性。在本综述中，我们概述了这些进展，讨论了诸如多端粒荧光原位杂交（FISH）和阵列比较基因组杂交（array CGH）等已经出现的技术，以及显示出未来诊断潜力的新方法。迄今为止的进展突出了一些新的考虑因素，如拷贝数多态性（CNPs），它们会使基因组失衡的解释及其与ILD的相关性变得复杂。然而，更重要的是，它们在诊断能力上有了显著的约15 - 20%的提高，同时促进了基因型/表型的相关性研究，并为识别和理解参与神经认知功能的基因提供了新途径。
