Fluorescent In Situ Hybridization Using Chromosome- Specific DNA Libraries

Fluorescent in situ hybridization (FISH) is a powerful tool to analyze structural chromosome aberrations. The identification of structural abnormalities by routine and high resolution cytogenetic studies plays an important role in the diagnosis and treatment of disease. However, this analysis is relatively gross and only permits the visual diagnosis of aberrations of single chromosome bands on the order of seven million or so base pairs. FISH using chromosome-specific DNA libraries (chromosome painting) permits the identification of small chromosome aberrations, which are not readily detected by standard high resolution banding techniques. FISH may be used to identify marker chromosomes, clarify balanced or unbalanced translocations, define chromosome duplications, or analyze complex chromosome rearrangements. FISH may be used in prenatal and postnatal cytogenetic studies. This chapter provides a detailed description of the use of FISH to detect chromosome abnormalities, employing chromosome-specific libraries as probes and metaphase chromosomes as target DNA.