Cytogenetic and Physical Chromosomal Maps: Integration

It is now possible to link a cytogenetic location directly with the sequence of the human genome. This is accomplished by using a toolset consisting of high-resolution fluorescent in situ hybridization-mapped and sequenced bacterial artificial chromosome clones distributed at 1–2 Mb intervals across the genome. This toolset is available from a commercial repository and is searchable in publicly available databases cross-referenced to extant information on cancer-associated chromosomal aberrations.

Keywords: cytogenetics; bacterial artificial chromosomes; fluorescent in situ hybridization; genome sequence; database

Figure 1. Localization of bacterial artificial chromosome (BAC) clones to a specific site on human prometaphase chromosomes. (Reproduced with permission from the National Cancer Institute, Cancer Genome Anatomy Project.)
Figure 2. Mapview display of BAC clone placement on chromosome 16.
Figure 3. FISH clone composite map of region 7pter–7p22.1.
Figure 4. An example of part of the Mitelman database.
Figure 5. The first page of the genomic sequence of bacterial artificial chromosome (BAC) clone RP11-297M9 which has been mapped using high-resolution fluorescent in situ hybridization (FISH) to 16p13.2a–16p13.2b. (Reproduced with permission from the National Center for Biotechnology Information and the National Cancer Institute, USA.)
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    (2001) The Human Genome. Nature 409: 745–964.
    (2001) The Human Genome. Science 291: 1145–1434.
    book Vogelstein B and Kinzler KW (2001) "Basic concepts in cancer genetics". In: Scriver CR, Beaudet AL, Sly WS, et al. (eds.) The Metabolic and Molecular Bases of Inherited Disease. New York, NY: McGraw-Hill.
 Web Links
    ePath ResGen, Invitrogen Corporation http://www.resgen.com
    ePath Cancer Genome Anatomy Project, FISH Mapped BACs CCAP http://cgap.nci.nih.gov/Chromosomes/CCAP_BAC_Clones
    ePath USCS Genome Bioinformatics http://genome.ucsc.edu/goldenPath/mapPlots
    ePath The Wellcome Trust/Sanger Institute, EBI Ensembl Genome Browser http://www.ensembl.org
    ePath GenMap DB, Human BAC Map DBMS http://genomics.med.upenn.edu/genmapdb
    ePath Cancer Genome Anatomy Project, Mitelman Database of Chromosome Aberrations in Cancer http://cgap.nci.nih.gov/Chromosomes/Mitelman
    ePath Developmental Gene Anatomy Project http://www.bwhpathology.org/dgap
    ePath OpenBiosystems http://www.openbiosystems.com
    ePath SKY and CGH database. Developed in a collaboration between NCI and NCBI http://www.ncbi.nlm.nih.gov/sky/
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Kirsch, Ilan R, and Ried, Thomas(Sep 2006) Cytogenetic and Physical Chromosomal Maps: Integration. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0005918]