Nowak Daniel, Hofmann Wolf-Karsten, Koeffler H Phillip
Division of Hematology and Oncology, Cedars Sinai Medical Center, UCLA School of Medicine, Los Angeles, USA.
Transfus Med Hemother. 2009;36(4):246-251. doi: 10.1159/000225372. Epub 2009 Jul 10.
The availability of high-density single nucleotide polymorphism (SNP) microarrays in recent years has proven to be a great step forward in the context of global analysis of genomic abnormalities in disease. SNP arrays offer great robustness, high resolution and the possibility to detect a variety of different genomic copy number variations such as submicroscopic deletions, amplifications, loss of heterozygosity and uniparental disomy. Moreover, they can be used to perform genome wide association studies. Therefore, SNP arrays harbor several advancements over traditional molecular methods to analyze genomic aberrations, such as cytogenetic analyses, fluorescence in situ hybridization or comparative genomic hybridization methods. Until now, SNP arrays have exclusively been used in experimental research and have enabled seminal new discoveries in many fields by identifying common genomic lesions underlying specific diseases, especially cancer. However, it is foreseeable that SNP arrays will also take up a position in routine diagnostic processes in the future. This review focuses on technical principles of the SNP array technology and their utilization to detect submicroscopic genomic and polymorphic markers associated with disease.
近年来，高密度单核苷酸多态性（SNP）微阵列的出现被证明是疾病基因组异常全局分析方面向前迈出的重要一步。SNP阵列具有很强的稳健性、高分辨率，并且能够检测多种不同的基因组拷贝数变异，如亚微观缺失、扩增、杂合性缺失和单亲二体。此外，它们还可用于进行全基因组关联研究。因此，与传统的分析基因组畸变的分子方法（如细胞遗传学分析、荧光原位杂交或比较基因组杂交方法）相比，SNP阵列具有多项优势。到目前为止，SNP阵列仅用于实验研究，并通过识别特定疾病（尤其是癌症）潜在的常见基因组病变，在许多领域取得了重大新发现。然而，可以预见，SNP阵列未来也将在常规诊断过程中占据一席之地。本综述重点关注SNP阵列技术的技术原理及其在检测与疾病相关的亚微观基因组和多态性标记方面的应用。
