FISH Techniques, FISH Probes and Their Applications in Medicine and Biology — An Overview

Abstract

FISH, as an acronym for fluorescence in situ hybridization, has been coined to describe this very powerful technique which allows direct visualization of genetic alterations on a cell by cell basis. Generally, the aim of the technique is to demonstrate either imbalances, in the form of gains or losses of segments of chromosome materials, or to demonstrate specific breakpoints with or without imbalance. Since fluorescence hybridization initially was introduced for chromosome classification (Pinkel et al. 1986) the technique has been adopted in an ever-increasing range of applications in both medicine and biology and almost 10,000 articles have now been published utilizing FISH technology. The present review will give an outline of the principles of this technique and its use in different areas of human disease and in research, with special emphasis on FISH as a diagnostic tool in chromosome and genome analysis within clinical genetics and oncology.