Multi‐color FISH assays for characterization of marker chromosomes and epigenetic changes

Abstract

Multicolor fluorescence in situ hybridization (mFISH) assays are essential for a precise description of chromosomal rearrangements. Routine application on human chromosomes started in 1996 with the simultaneous use of all 24 human whole chromosome painting probes in multiplex‐FISH (M‐FISH) and spectral karyotyping (SKY), even though the principle of mFISH was already described in 1989. Numerous approaches for chromosomal differentiation based on mFISH assays were reported recently. Predominantly, these have been established to characterize marker chromosomes, but also in many other fields mFISH is applied nowadays (for overview see the mFISH homepage http://www.med.uni‐jena.de/fish/mFISH/mFISHlit.htm). Here we review the recent developments and applications of mFISH including variants of M‐FISH, FISH‐banding techniques and applications in 2‐D and 3‐D‐FISH. Also a recently invented possibility to do sort of 'microsatellite analyses' in situ on human chromosomes called parental origin determination FISH (pod‐FISH) is presented. Overall, mFISH approaches are and will be essential scientific and diagnostic tools irrespective of being called death due to recent chip‐ and array‐technology developments. Supported in parts by the Stiftung Leukämie, Stefan‐Morsch‐Stiftung, DAAD 415‐br‐probal/po‐D/07/09624 and D07/00070 and the DFG (LI 820/11‐1, LI 820/13‐1, LI 820/17‐1).