Chapter 7 - Array-based Comparative Genomic Hybridization in the Analysis of Genomic Alterations in Human Disease

Abstract

Besides their utilization in gene expression studies, the concept of using microarrays has been explored in the study of other molecular genetic aspects of human disease. This includes the use of arrays for the detection of gains and losses of genomic DNA. Fluctuations in DNA sequence copy number with concomitant microscopic or cryptic chromosomal aberrations are becoming increasingly correlated with phenotypic abnormalities. Characteristic isolated DNA copy abnormalities occur in a variety of inherited syndromes, and genomic DNA amplification, deletion, or both is a common alteration occurring in cancer cells. The development of many human neoplasms follows a defined series of histopathologic stages, a process that involves multiple genetic changes such as translocations, deletions, duplications, and alterations in chromosomal copy number changes. Importantly, such abnormalities often involve areas of DNA harboring oncogenes and tumor suppression genes that play an important role in the cell cycle control, and their alteration affects cancer growth.