Techniques

Spectral karyotyping of human, mouse, rat and ape chromosomes - applications for genetic diagnostics and research
E. Schrock^a, P. Zschieschang^a, P. O'Brien^b, A. Helmrich^c, T. Hardt^a, A. Matthaei^a, K. Stout-Weider<sup>d

a</sup>Institut für Klinische Genetik, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden (Germany);
^bDepartment of Clinical Veterinary Medicine, Centre for Veterinary Science, Veterinary Cytogenetics Group, Madingley Road, Cambridge (UK);
^cInstitut de Génétique et de Biologie Moléculaire et Cellulaire, CU de Strasbourg, Illkirch (France);
^dInstitut für Medizinische Genetik, Charité - Universitätsmedizin Berlin, Campus Virchow-Klinikum, Berlin (Germany)

Address of Corresponding Author

Cytogenet Genome Res 2006;114:199-221 (DOI: 10.1159/000094203)

  Abstract.

Spectral karyotyping (SKY) is a widely used methodology to identify genetic aberrations. Multicolor fluorescence in situ hybridization using chromosome painting probes in individual colors for all metaphase chromosomes at once is combined with a unique spectral measurement and analysis system to automatically classify normal and aberrant chromosomes. Based on countless studies and investigations in many laboratories worldwide, numerous new chromosome translocations and other aberrations have been identified in clinical and tumor cytogenetics. Thus, gene identification studies have been facilitated resulting in the dissection of tumor development and progression. For example, different translocation partners of the TEL/ETV6 transcription factor that is specially required for hematopoiesis within the bone marrow were identified. Also, the correct classification of complex karyotypes of solid tumors supports the prognostication of cancer patients. Important accomplishments for patients with genetic diseases, leukemias and lymphomas, mesenchymal tumors and solid cancers are summarized and exemplified. Furthermore, studies of disease mechanisms such as centromeric DNA breakage, DNA double strand break repair, telomere shortening and radiation-induced neoplastic transformation have been accompanied by SKY analyses. Besides the hybridization of human chromosomes, mouse karyotyping has also contributed to the comprehensive characterization of mouse models of human disease and for gene therapy studies.

Copyright © 2006 S. Karger AG, Basel

  Author Contacts

Request reprints from Evelin Schrock, MD, Professor
Institut für Klinische Genetik, Medizinische Fakultät Carl Gustav Carus
Technische Universität Dresden, Fetscherstrae 74
DE-01307 Dresden (Germany)
telephone: +49-351-458 5136; fax: +49-351-458 6337
e-mail: evelin.schrock@tu-dresden.de

  Article Information

This work was supported by the German Federal Ministry of Education and Research, BMBF, BioFuture grant 0311875 (ES).

Manuscript received: 8 May 2006
Accepted in revised form for publication by T. Liehr,: 19 May 2006.
Number of Print Pages : 23
Number of Figures : 4, Number of Tables : 0, Number of References : 192