Abstract
Genomic instability tends to occur at specific genomic regions known as common fragile sites (FS). FS are evolutionarily conserved and generally involve late replicating regions with AT-rich sequences. The possible correlation between some FS and cancer-related breakpoints emphasizes on the importance of understanding the mechanisms of chromosomal instability at these sites.
Although about 230 FS have already been mapped cytogenetically, only a few of them have been characterized on a molecular level. In this chapter, we provide a protocol for mapping of common FS using bacterial artificial chromosome (BAC) probes in fluorescence in situ hybridization (FISH) and suggest the usage of lymphocytes from Fanconi anemia patients as a model system. In the latter, rare FS are expressed much more frequently than in, for example, aphidicolin-induced blood lymphocyte preparations. Knowing the exact location of FS enables the molecular comparison of their location and breakpoints that appear during evolution, cancer development and inherited disorders.
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Acknowledgments
Supported in parts by IZKF Jena, Evangelische Studienwerk e.V. Villigst, Ernst-Abbe-Stiftung, DAAD and Deutsche Fanconi-Anämie-Hilfe e.V.
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Mrasek, K. et al. (2015). BAC-Probes Applied for Characterization of Fragile Sites (FS). In: Narayanan, K. (eds) Bacterial Artificial Chromosomes. Methods in Molecular Biology, vol 1227. Humana Press, New York, NY. https://doi.org/10.1007/978-1-4939-1652-8_15
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DOI: https://doi.org/10.1007/978-1-4939-1652-8_15
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Publisher Name: Humana Press, New York, NY
Print ISBN: 978-1-4939-1651-1
Online ISBN: 978-1-4939-1652-8
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