Analysis of Telomere Length and Aberrations by Quantitative FISH

  • Elise FouquerelEmail author
  • Patricia Opresko
Part of the Methods in Molecular Biology book series (MIMB, volume 2102)


A key component of sustained cellular proliferation is the preservation of telomere integrity. Telomeres are nucleoprotein structures that cap and protect linear chromosomes. Their linearity and repetitive sequence represent a challenge for the replication machinery and cause telomere shortening, fragility, and losses. Here we describe the common technique of quantitative fluorescent in situ hybridization that allows for the scoring of telomere aberrations and measurement of telomere length directly on metaphase chromosomes through the use of highly specific peptide nucleic acid probes.

Key words

Telomeres Metaphase chromosome spreads Fragile telomeres Telomere loss Telomere length Fluorescent in situ hybridization Peptide nucleic acid Fluorescence microscopy 



Work in the Fouquerel lab is supported by NIH grant R00ES027028 and start-up fund 108-02000-444075. Work in the Opresko lab is supported by NIH grants (R01CA207342, R01ES022944, R01ES028242, R35 ES030396).


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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2020

Authors and Affiliations

  1. 1.Department of Biochemistry and Molecular Biology, Sidney Kimmel Medical CollegeThomas Jefferson UniversityPhiladelphiaUSA
  2. 2.Department of Environmental and Occupational HealthUniversity of Pittsburgh Graduate School of Public HealthPittsburghUSA
  3. 3.UPMC Hillman Cancer CenterPittsburghUSA

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