Skip to main content

Zukunft der Zytogenetik

Future of cytogenetics

Zusammenfassung

Der Themenschwerpunkt dieser Ausgabe der Zeitschrift „Medizinische Genetik“ ist der gegenwärtigen Entwicklung der Zytogenetik gewidmet. Die klassische Bänderungsanalyse, die seit Jahrzehnten in der humangenetischen Routinediagnostik eine zentrale Position einnimmt, wird anhand qualitätssichernder Maßnahmen dargestellt. Verschiedene Beiträge beschreiben die molekulare Zytogenetik, die im Wesentlichen auf der Fluoreszenz-in-situ-Hybridisierung (FISH) beruht. Die Einführung der vergleichenden genomischen Hybridisierung [“comparative genomic hybridization“ (CGH)], speziell auf Arrayplattformen, hat die Zytogenetik revolutioniert und erlaubt die Bearbeitung völlig neuer Fragestellungen. Ein besonderer Schwerpunkt der Zytogenetik, der sie von vielen anderen molekularen Techniken unterscheidet, ist, dass sie Analysen auf Einzelzellniveau ermöglichen. Mit dem vorliegenden Heft wird auch versucht, mögliche zukünftige Entwicklungen der Zytogenetik aufzuzeichnen.

Abstract

This issue of the journal “Medizinische Genetik” emphasizes the current development of cytogenetic technologies. Changes in classical banding analysis, which has been a cornerstone of routine human genetics diagnostics for decades, are illustrated by means of quality assurance measures. Several contributions in this issue describe molecular cytogenetic technologies, which are based on fluorescence in situ hybridization (FISH). The introduction of comparative genomic hybridization, especially on various array platforms, revolutionized cytogenetics even further and now allows researchers to address entirely new questions and problems in human genetics. An especial stronghold of cytogenetics that distinguishes it from other molecular technologies is the option to perform analyses on a single-cell level. In this issue, possible future developments in cytogenetics are also discussed.

This is a preview of subscription content, access via your institution.

Literatur

  1. 1.

    Bruder CE, Piotrowski A, Gijsbers AA et al (2008) Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles. Am J Hum Genet 82:763–771

    PubMed  Article  CAS  Google Scholar 

  2. 2.

    Caspersson T, Zech L, Johansson C (1970) Analysis of human metaphase chromosome set by aid of DNA-binding fluorescent agents. Exp Cell Res 62:490–492

    PubMed  Article  CAS  Google Scholar 

  3. 3.

    Cremer T, Landegent J, Brückner A et al (1986) Detection of chromosome aberrations in the human interphase nucleus by visualization of specific target DNAs with radioactive and non-radioactive in situ hybridization techniques: diagnosis of trisomy 18 with probe L1.85. Hum Genet 74:346–352

    PubMed  Article  CAS  Google Scholar 

  4. 4.

    Kallioniemi A., Kallioniemi OP, Sudar D et al (1992) Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors. Science 258:818–821

    PubMed  Article  CAS  Google Scholar 

  5. 5.

    Ledford H (2008) The death of microarrays? Nature 455:847

    PubMed  Article  CAS  Google Scholar 

  6. 6.

    Manoir S du, Speicher MR, Joos S et al (1993) Detection of complete and partial chromosome gains and losses by comparative genomic in situ hybridization. Hum Genet 90:590–610

    PubMed  Article  Google Scholar 

  7. 7.

    Mardis ER (2008) The impact of next-generation sequencing technology on genetics. Trends Genet 24:133–141

    PubMed  CAS  Google Scholar 

  8. 8.

    Pinkel D, Segraves R, Sudar D et al (1998) High resolution analysis of DNA copy number variations using comparative genomic hybridization to microarrays. Nat Genet 20:207–211

    PubMed  Article  CAS  Google Scholar 

  9. 9.

    Piotrowski A, Bruder CE, Andersson R et al (2008) Somatic mosaicism for copy number variation in differentiated human tissues. Hum Mutat 29:1118–1124

    PubMed  Article  Google Scholar 

  10. 10.

    Solinas-Toldo S, Lampel S, Stilgenbauer S et al (1997) Matrix-based comparative genomic hybridization: biochips to screen for genomic imbalances. Genes Chromosomes Cancer 20:399–407

    PubMed  Article  CAS  Google Scholar 

  11. 11.

    Speicher MR, Carter NP (2005) The new cytogenetics: blurring the boundaries with molecular biology. Nat Rev Genet 6:782–792

    PubMed  Article  CAS  Google Scholar 

Download references

Author information

Affiliations

Authors

Corresponding author

Correspondence to M.R. Speicher.

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Speicher, M. Zukunft der Zytogenetik. medgen 20, 349–352 (2008). https://doi.org/10.1007/s11825-008-0129-4

Download citation

Schlüsselwörter

  • Bänderungsanalyse
  • Molekulare Zytogenetik
  • Fluoreszenz-in-situ-Hybridisierung (FISH)
  • „comparative genomic hybridization“ (CGH)
  • Einzelzellniveau

Keywords

  • Banding analysis
  • Molecular cytogenetic technologies
  • Fluorescence in situ hybridization (FISH)
  • Comparative genomic hybridization
  • Single-cell level