PMID- 25239753 OWN - NLM STAT- MEDLINE DCOM- 20150521 LR - 20140920 IS - 1940-6029 (Electronic) IS - 1064-3745 (Linking) VI - 1227 DP - 2015 TI - BAC-probes applied for characterization of fragile sites (FS). PG - 289-98 LID - 10.1007/978-1-4939-1652-8_15 [doi] AB - 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. FAU - Mrasek, Kristin AU - Mrasek K AD - Jena University Hospital, Institute of Human Genetics, Friedrich Schiller University, Kollegiengasse 10, Jena, D-07743, Germany. FAU - Wilhelm, Kathleen AU - Wilhelm K FAU - Quintana, Luciana G AU - Quintana LG FAU - Theuss, Luise AU - Theuss L FAU - Liehr, Thomas AU - Liehr T FAU - Leskovac, Andreja AU - Leskovac A FAU - Filipovic, Jelena AU - Filipovic J FAU - Joksic, Gordana AU - Joksic G FAU - Joksic, Ivana AU - Joksic I FAU - Weise, Anja AU - Weise A LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - United States TA - Methods Mol Biol JT - Methods in molecular biology (Clifton, N.J.) JID - 9214969 RN - 0 (Molecular Probes) RN - 0 (Mutagens) RN - 38966-21-1 (Aphidicolin) SB - IM MH - Aphidicolin/toxicity MH - Cell Line MH - *Chromosome Fragile Sites MH - Chromosome Mapping MH - Chromosomes, Artificial, Bacterial/*chemistry/genetics MH - Fanconi Anemia/*genetics/metabolism/pathology MH - *Genome, Human MH - Genomic Instability MH - Humans MH - In Situ Hybridization, Fluorescence/*methods MH - Lymphocytes/chemistry/drug effects/pathology MH - Molecular Probes/*chemistry/genetics MH - Mutagens/toxicity EDAT- 2014/09/23 06:00 MHDA- 2015/05/23 06:00 CRDT- 2014/09/21 06:00 PHST- 2014/09/21 06:00 [entrez] PHST- 2014/09/23 06:00 [pubmed] PHST- 2015/05/23 06:00 [medline] AID - 10.1007/978-1-4939-1652-8_15 [doi] PST - ppublish SO - Methods Mol Biol. 2015;1227:289-98. doi: 10.1007/978-1-4939-1652-8_15.