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.)



Caspersson T, Farber S, Foley GE, et al. (1968) Chemical differentiation along metaphase chromosomes. Experimental Cell Research 49(supplement 1): 219–222.

Cheung VG, Nowak N, Jang W, et al. (2001) Integration of cytogenetic landmarks into the draft sequence of the human genome. Nature 409(supplement 6822): 953–958.

Kallioniemi A, Kallioniemi OP, Sudar D, et al. (1992) Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors. Science 258(supplement 5083): 818–821.

Lawrence JB, Villnave CA and Singer RH (1988) Sensitive, high‐resolution chromatin and chromosome mapping in situ: presence and orientation of two closely integrated copies of EBV in a lymphoma line. Cell 52(supplement 1): 51–61.

Schröck E, du Manoir S, Veldman T, et al. (1996) Multicolor spectral karyotyping of human chromosomes. Science 273(supplement 5274): 494–497.

Snijders AM, Nowak N, Segraves R, et al. (2001) Assembly of microarrays for genome‐wide measurement of DNA copy number. Nature Genetics 29(supplement 3): 263–264.

Taub R, Kirsch I, Morton C, et al. (1982) Translocation of the c‐myc gene into the immunoglobulin heavy chain locus in human Burkitt lymphoma and murine plasmacytoma cells. Proceedings of the National Academy of Sciences of the United States of America 79(supplement 24): 7837–7841.

Tjio J and Levan A (1956) The chromosome number in man. Hereditas 42: 1–6.

Further Reading

(2001) The Human Genome. Nature 409: 745–964.

(2001) The Human Genome. Science 291: 1145–1434.

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

ResGen, Invitrogen Corporation

Cancer Genome Anatomy Project, FISH Mapped BACs CCAP

USCS Genome Bioinformatics

The Wellcome Trust/Sanger Institute, EBI Ensembl Genome Browser

GenMap DB, Human BAC Map DBMS

Cancer Genome Anatomy Project, Mitelman Database of Chromosome Aberrations in Cancer

Developmental Gene Anatomy Project


SKY and CGH database. Developed in a collaboration between NCI and NCBI

Contact Editor close
Submit a note to the editor about this article by filling in the form below.

* Required Field

How to Cite close
Kirsch, Ilan R, and Ried, Thomas(Sep 2006) Cytogenetic and Physical Chromosomal Maps: Integration. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1002/9780470015902.a0005918]