New aspects on chromosomal instability: Chromosomal break-points in Fanconi anemia patients co-localize on the molecular level with fragile sites

  • Authors:
    • Christiane Schoder
    • Thomas Liehr
    • Eunike Velleuer
    • Kathleen Wilhelm
    • Nancy Blaurock
    • Anja Weise
    • Kristin Mrasek
  • View Affiliations

  • Published online on: February 1, 2010     https://doi.org/10.3892/ijo_00000501
  • Pages: 307-312
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Abstract

Within cytogenetic preparations chromosomal breaks can be observed in patients suffering from Fanconi anemia (FA), a recessively inherited syndrome with an extremely elevated cancer risk, but also in healthy individuals as so-called fragile sites (FS). It is known that FS cytogenetically co-localize with tumor- and evolutionary- conserved chromosomal break-points. The also suggested co-localization of FS and FA associated break-points (FA-bp) was studied here for the first time systematically by molecular cytogenetics. Metaphase chromosomes were obtained from lymphocytes of two FA patients (FANC-A and FANC-C, respectively). Overall 50.58% of the investigated FA-bp correspond to cytogenetic regions with known FS. A detailed molecular cytogenetic study applying FS-spanning probes revealed that 24/29 (82.8%) of analyzed FS are in concordance with FA-bp. Notably, FA-bp show a distribution pattern deviating from that of Aphidicolin induced FS. FA-bp appear more frequently within GTG-light bands and additionally, a yet unreported correlation was observed between break rate and chromosomal banding level. In future, FA-bp might serve as model for the mapping and analysis of otherwise rarely observable FS.

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February 2010
Volume 36 Issue 2

Print ISSN: 1019-6439
Online ISSN:1791-2423

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Spandidos Publications style
Schoder C, Liehr T, Velleuer E, Wilhelm K, Blaurock N, Weise A and Mrasek K: New aspects on chromosomal instability: Chromosomal break-points in Fanconi anemia patients co-localize on the molecular level with fragile sites. Int J Oncol 36: 307-312, 2010
APA
Schoder, C., Liehr, T., Velleuer, E., Wilhelm, K., Blaurock, N., Weise, A., & Mrasek, K. (2010). New aspects on chromosomal instability: Chromosomal break-points in Fanconi anemia patients co-localize on the molecular level with fragile sites. International Journal of Oncology, 36, 307-312. https://doi.org/10.3892/ijo_00000501
MLA
Schoder, C., Liehr, T., Velleuer, E., Wilhelm, K., Blaurock, N., Weise, A., Mrasek, K."New aspects on chromosomal instability: Chromosomal break-points in Fanconi anemia patients co-localize on the molecular level with fragile sites". International Journal of Oncology 36.2 (2010): 307-312.
Chicago
Schoder, C., Liehr, T., Velleuer, E., Wilhelm, K., Blaurock, N., Weise, A., Mrasek, K."New aspects on chromosomal instability: Chromosomal break-points in Fanconi anemia patients co-localize on the molecular level with fragile sites". International Journal of Oncology 36, no. 2 (2010): 307-312. https://doi.org/10.3892/ijo_00000501