Overview of Cytogenetic Chromosome Analysis

Jane Bayani1, Jeremy A. Squire1

1 University of Toronto, Ontario, null
Publication Name:  Current Protocols in Cell Biology
Unit Number:  Unit 22.1
DOI:  10.1002/0471143030.cb2201s23
Online Posting Date:  September, 2004
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Abstract

This unit provides a brief overview of cytogenetic analysis of interphase ansd metaphase chromosomes. It includes a description of the methods provided in the units that follow.

Keywords: chromosome; FISH; SKY; MFISH; CGH; metaphase; interphase

     
 
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Table of Contents

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Materials

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Figures

  •   FigureFigure 22.1.1 Overview of techniques for chromosomal analysis. Information regarding the status of whole chromosomes or specific chromosomal loci can be obtained from fresh material, such as fresh tissues and cultured cell lines, as well as from archival material including paraffin‐embedded tissues, using FISH analysis. However, only cultured cells make it possible to perform specific chromosomal analysis using metaphase spreads as well as interphase cells. Tissues embedded in paraffin material can only provide information derived from interphase nuclei. Metaphase analysis provides information regarding ploidy, as well as the presence of structural changes such as balanced and unbalanced translocations, inversions, deletions, and additions. Complex extrachromosomal structures such as double‐minute chromosomes (dmins), homogeneously staining regions (HSRs), ring chromosomes (r), and multicentric or acentric chromosomes can also be revealed by metaphase analysis; these features can only be indirectly inferred by interphase analysis. Both fresh and archival material will yield DNA that can be used for comparative genomic hybridization (CGH), a genome‐screening technique. Other techniques that reveal chromosomal abnormalities and errors in the mitotic machinery include analysis of sister chromatid exchange and in situ hybridization using antibodies against proteins involved in the mitotic machinery, such as centrosomes.

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Literature Cited

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