ABSTRACT

The cytogenetics l aboratory has witnessed major advances in diagnostic and prognostic capability in the past decade with the use of molecular cytoge­ netics . The technique of fturoscence in situ hybridization (FISH), a hybrid of cytogenetics and molecular biology, has increased the resolution and ap­ plication of cytogenetics ( 1 ) . The availability of quality-controlled DNA probes from commercial sources has expedited the clinical use and accep­ tance of these tests . FISH is a technique that allows the detection of DNA sequences on metaphase chromosomes and interphase nuclei from a broad range of cells and tissues. In situ hybridization techniques use DNA probes which can hybridize to entire chromosomes or to single unique sequence genes and serve as a powerful adjunct to classical cytogenetic tests . The applications of FISH include aneuploidy detection, translocation and struc­ tural breakpoint analysis, microdeletion detection, and gene mapping, to be elaborated further in another chapter in this book. In this chapter we focus on the principles and methodology of FISH.