Standard Article

Gene Mapping and Chromosome Evolution by Fluorescence–Activated Chromosome Sorting

Structural Determination Techniques (DNA, RNA and Protein)

  1. Malcolm A. Ferguson-Smith

Published Online: 15 SEP 2006

DOI: 10.1002/3527600906.mcb.200300032

Reviews in Cell Biology and Molecular Medicine

Reviews in Cell Biology and Molecular Medicine

How to Cite

Ferguson-Smith, M. A. 2006. Gene Mapping and Chromosome Evolution by Fluorescence–Activated Chromosome Sorting. Reviews in Cell Biology and Molecular Medicine. .

Author Information

  1. Cambridge University Centre for Veterinary Science, Cambridge, UK

Publication History

  1. Published Online: 15 SEP 2006


The ability to sort and collect chromosomes by flow cytometry provides studies on gene mapping and chromosome evolution with a unique source of chromosome-specific DNA. Chromosome-specific gene libraries made from this DNA have yielded genetic markers used in constructing ordered chromosome maps. This was one of the key steps in the project which led to sequencing the human genome. PCR amplification of sorted chromosomal DNA has been used to prepare fluorescence-labeled chromosome-specific probes. When hybridized in situ to chromosome preparations, these probes “paint” the entire chromosome. The judicious use of different combinations of fluorochromes allows each chromosome pair in the cell to be given a different color. This procedure is helpful in the diagnosis of chromosome rearrangements present in malignant cells or associated with handicapping syndromes. Paint probes from one species can be used to identify homologous chromosome regions in other species. Comparison of the patterns of homology produced by reciprocal cross-species painting adds information on the evolutionary history of a species by distinguishing ancient chromosome rearrangements from those that have occurred more recently. The study of comparative genomics and karyotype evolution owes much to the development of these molecular cytogenetic techniques.


  • BAC (Bacterial Artificial Chromosome);
  • Chromosome-specific Paint Probe;
  • Contig;
  • Cross-species Reciprocal Chromosome Painting;
  • Cosmid;
  • FISH (Fluorescence in situ Hybridization);
  • Flow Karyotype;
  • Interchromosomal Rearrangement;
  • Intrachromosomal Rearrangement;
  • Plasmid Vector;
  • PCR (Polymerase Chain Reaction)