Cytogenetic Analysis by In Situ Hybridization with Fluorescently Labeled Nucleic Acid Probes

Abstract

The ability to detect cytogenetic abnormalities has increased as improved methods for chromosome identification have been developed. Banding techniques (Casperson et al. 1968; Yunis 1981) now allow identification of all human chromosomes as well as detection of a broad spectrum of structural and numerical chromosome aberrations. However, banding analysis has important limitations. It requires preparation of high-quality metaphase spreads and the attendant cell culture; it is not easily automated; and it requires time-consuming work by skilled observers. These limitations affect the application of banding analysis in a variety of clinical and experimental settings. Prenatal detection of aberrations is slow and laborious because of the cell culture and scoring process. Quantitative analysis of the frequency of translocated chromosomes for biological dosimetry is also hampered by the lengthy scoring process. Tumor cytogenetic analysis is limited by the difficulty of preparing high-quality metaphase spreads that are representative of the tumorigenic cells in the...