Molecular Cytogenetic Analysis of Telomere Rearrangements

Christa Lese Martin1, David H. Ledbetter1

1 Autism and Developmental Medicine Institute, Geisinger Health System, Danville, Pennsylvania
Publication Name:  Current Protocols in Human Genetics
Unit Number:  Unit 8.11
DOI:  10.1002/0471142905.hg0811s84
Online Posting Date:  January, 2015
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Abstract

Genomic imbalances involving the telomeric regions of human chromosomes, which contain the highest gene concentration in the genome, are proposed to have severe phenotypic consequences. For this reason, it is important to identify telomere rearrangements and assess their contribution to human pathology. This unit describes the structure and function of human telomeres and outlines several methodologies that can be employed to study these unique regions of human chromosomes. It is a revision of the original version of the unit published in 2000, now including an introductory section describing advances in the discipline that have taken place since the original publication. © 2015 by John Wiley & Sons, Inc.

Keywords: telomere; copy number variants; chromosomal microarray

     
 
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Table of Contents

  • Introduction: Advances in the Field of Molecular Cytogenetic Analysis of Telomere Rearrangements Since 2000
  • Acknowledgements for the Revised Unit
  • Molecular Cytogenetic Analysis of Telomere Rearrangements (Original Version)
  • Telomere Structure and Function
  • Development of Unique Human Telomere Probes
  • Methods for Identifying Telomere Rearrangements
  • Clinical Applications/Future Research
  • Literature Cited
  • Figures
  • Tables
     
 
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Materials

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Literature Cited

Literature Cited
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