Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Département de Génétique et Cytogénétique, France.
Expert Rev Mol Diagn. 2011 Jun;11(5):521-32. doi: 10.1586/erm.11.32.
Oligonucleotide microarrays such as comparative genomic hybridization arrays and SNP microarrays enable the identification of genomic imbalances - also termed copy-number variants - with increasing resolution. This article will focus on the most significant applications of high-throughput oligonucleotide microarrays, both in genetic diagnosis and research. In genetic diagnosis, the method is becoming a standard tool for investigating patients with unexplained developmental delay/intellectual disability, autism spectrum disorders and/or with multiple congenital anomalies. Oligonucleotide microarray have also been recently applied to the detection of genomic imbalances in prenatal diagnosis either to characterize a chromosomal rearrangement that has previously been identified by standard prenatal karyotyping or to detect a cryptic genomic imbalance in a fetus with ultrasound abnormalities and a normal standard prenatal karyotype. In research, oligonucleotide microarrays have been used for a wide range of applications, such as the identification of new genes responsible for monogenic disorders and the association of a copy-number variant as a predisposing factor to a common disease. Despite its widespread use, the interpretation of results is not always straightforward. We will discuss several unexpected results and ethical issues raised by these new methods.
寡核苷酸微阵列，如比较基因组杂交微阵列和 SNP 微阵列，能够以越来越高的分辨率识别基因组失衡——也称为拷贝数变异。本文将重点介绍高通量寡核苷酸微阵列在遗传诊断和研究中的最重要应用。在遗传诊断中，该方法已成为研究不明原因发育迟缓/智力障碍、自闭症谱系障碍和/或多发性先天畸形患者的标准工具。寡核苷酸微阵列最近也已应用于产前诊断中的基因组失衡检测，以描述先前通过标准产前核型分析确定的染色体重排，或检测具有超声异常和正常标准产前核型的胎儿中的隐匿性基因组失衡。在研究中，寡核苷酸微阵列已被广泛应用于各种应用，例如鉴定负责单基因疾病的新基因，以及鉴定拷贝数变异是否为常见疾病的易患因素。尽管其应用广泛，但结果的解释并不总是那么直接。我们将讨论这些新方法带来的一些意外结果和伦理问题。
