Fluorescence in situ Hybridization


Fluorescence in situ hybridization is the detection of highly specific DNA/RNA probes which have been hybridized to their complementary sequences on morphologically preserved chromosomes or tissue sections.

Keywords: probes; clinical cytogenetics; cancer cytogenetics; other applications

Figure 1.

Whole chromosome paint for X chromosome showing a triple X on a fetal blood metaphase. X probe labelled with biotin‐flourescein isothiocyanate; counterstain used is propidium iodide.

Figure 2.

Uncultured amniocytes labelled with commercial probes from Vysis (USA). (a) Chromosome X is labelled with spectrum green, 18 with spectrum orange and Y with spectrum aqua. (b) Chromosome 13 labelled with spectrum green and 21 with spectrum orange.

Figure 3.

The bcr/abl probe used on (a) metaphase and (b) interphase cells of a chronic myeloid leukaemia patient. Chromosome 9 is identified by spectrum orange and 22 by spectrum green. The translocation t(9;22) is seen by the yellow signal. Photograph kindly supplied by Dr F. Ross, Wessex Regional Genetics Laboratories, Salisbury, UK.



Chen CP, Devriendt K, Chern SR, Lee CC, Wang W and Lin SP (2000) Prenatal diagnosis of inherited satellited non‐acrocentric chromosomes. Prenatal Diagnosis 20: 384–389.

Davies KE (1993) Human genetic disease analysis – a practical approach. In: Rickwood D and Hames BD (eds) The Practical Approach Series. Oxford: IRL Press at Oxford University Press.

Klijanienko J, Couturier J, Galut M et al. (1999) Detection and quantitation by fluorescence in situ hybridization (FISH) and image analysis of HER‐2/neu gene amplification in breast cancer fine‐needle samples. Cancer 87: 312–318.

Knight SJ, Regan R, Nicod A et al. (1999) Subtle chromosomal rearrangements in children with unexplained mental retardation. Lancet 354: 1676–1681.

Ligon AH, Beaud AL and Shaffer LG (1997) Simultaneous, multilocus FISH analysis for detection of microdeletions in the diagnostic evaluation of developmental delay and mental retardation. American Journal of Human Genetics 61: 51–59.

Liou JD, Ma YY, Gibson LH et al. (1997) Cytogenetic and molecular studies of a familial paracentric inversion of Y chromosome present in a patient with ambiguous genitalia. American Journal of Medical Genetics 70: 134–137.

Liu J, Tsai YL, Zheng XZ, Baramki TA, Yazigi RA and Katz E (1998) Potential use of fluorescent in‐situ hybridization in the same human blastomere for preimplantation genetic diagnosis. Fertility and Sterility 70: 729–733.

Pajor L, Vass JA, Kereskai L, Szuhai K, Molnar L and Jakso P (2000) Silent Philadelphia chromosome: a distinct developmental stage in a Philadelphia chromosome‐positive chronic myeloproliferation? Cancer Genetics and Cytogenetics 118: 14–19.

Speicher SR, Ballard SG and Ward DC (1996) Karyotyping human chromosomes by combinatorial multi‐fluor FISH. Nature Genetics 12: 368.

Spikes AS, Hegmann K, Smith JL and Shaffer LG (1995) Use of fluorescence in situ hybridization to clarify a complex chromosomal rearrangement in a child with multiple congenital anomalies. American Journal of Medical Genetics 57: 31–34.

Viegas‐Pequinot, Berrard S, Brice A, Apiou F and Mallet J (1991) Localization of a 900 bp long fragment of the human choline acetyltransferase gene to 10q11.2 by nonradioactive in situ hybridization. Genomics 9: 210–212.

Further Reading

Adinolfi M and Colla J (1994) Non‐isotopic in‐situ hybridization: clinical cytogenetics and gene mapping. In: Harris H and Hirschorn K (eds) Advances in Human Genetics, vol. 22. New York: Plenum Press.

Connor JM and Fergusson‐Smith MA (1995) Essential Medical Genetics, 5th edn. Oxford: Blackwell Scientific Publications.

Gaenshirt D, Garritsen HSP and Holzgreve W (1995) Prenatal diagnosis using fetal cells in the maternal circulation. Fetal and Maternal Medicine Review 7: 77–85.

Lichter P (1997) Multicolor FISHing: what's the catch? Review. Trends in Genetics 13: 475–479.

Reid T, Schrock E, Ning Yi and Weinberg J (1998) Chromosome painting: a useful art. Human Molecular Genetics 7: 1619–1626.

Rooney DE and Czepulkowski BH (1992) Human Cytogenetics, vol. 1, Constitutional Analysis – A Practical Approach. Oxford: Oxford University Press.

Tkachuk DC, Pinkel D, Kuo WL, Weier HU and Gray JW (1991) Clinical applications of fluorescence in situ hybridisation. Genetic Analysis, Techniques and Applications 8: 67–74.

Trask BJ (1991) Fluorescence in situ hybridisation: applications in cytogenetics and gene mapping. Trends in Genetics 7: 149–154.

Verlinsky Y and Kuliev A (1998) Preimplantation genetics: review. Journal of Assisted Reproduction and Genetics 15: 215–218.

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

* Required Field

How to Cite close
Gole, Leena(Apr 2001) Fluorescence in situ Hybridization. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1038/npg.els.0001468]