Pinkel Daniel, Albertson Donna G
Department of Laboratory Medicine and Comprehensive Cancer Center, University of California San Francisco, Box 0808, San Francisco, California 94143, USA.
Nat Genet. 2005 Jun;37 Suppl:S11-7. doi: 10.1038/ng1569.
Alteration in DNA copy number is one of the many ways in which gene expression and function may be modified. Some variations are found among normal individuals, others occur in the course of normal processes in some species and still others participate in causing various disease states. For example, many defects in human development are due to gains and losses of chromosomes and chromosomal segments that occur before or shortly after fertilization, and DNA dosage-alteration changes occurring in somatic cells are frequent contributors to cancer. Detecting these aberrations and interpreting them in the context of broader knowledge facilitates the identification of crucial genes and pathways involved in biological processes and disease. Over the past several years, array comparative genomic hybridization has proven its value for analyzing DNA copy-number variations. Here, we discuss the state of the art of array comparative genomic hybridization and its applications in cancer, emphasizing general concepts rather than specific results.
DNA拷贝数改变是基因表达和功能可能被修饰的众多方式之一。一些变异在正常个体中被发现，其他变异发生在某些物种的正常过程中，还有一些变异参与导致各种疾病状态。例如，人类发育中的许多缺陷是由于受精前或受精后不久发生的染色体和染色体片段的增减，而体细胞中发生的DNA剂量改变变化是癌症的常见促成因素。在更广泛的知识背景下检测这些畸变并对其进行解释，有助于识别参与生物过程和疾病的关键基因和途径。在过去几年中，阵列比较基因组杂交已证明其在分析DNA拷贝数变异方面的价值。在这里，我们讨论阵列比较基因组杂交的技术现状及其在癌症中的应用，重点强调一般概念而非具体结果。
