PERAN TEHNIK SITOGENETIK MOLEKULER FLUORESCENT IN SITU HYBRIDIZATION (FISH) PADA DIAGNOSTIK GENETIK

Hidayaturrahmi Hidayaturrahmi, Ni Wajan Tirthaningsih

= http://dx.doi.org/10.20473/mbiom.v28i1.2015.1-5
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Abstract


Fluorescent in situ hybridization techniques (FISH) is a molecular cytogenetic technique used to detect chromosomal abnormalities using fluorescence microscope. This technique bridges the gap between conventional metaphase chromosome analysis with molecular genetic analysis (DNA). FISH technique has sensitivity, specificity, and high speed in the implementation process, so that it becomes the technique of choice to detect the microdeletion and microduplication syndrome (deletion < 4Mb), along with mental retardation characteristic. FISH provide useful information for the genetic counseling of affected families. In general, FISH can be used to diagnose genetic disorders and estimate prognosis. However, FISH cannot be used as a screening test for chromosomal rearrangement.

Keywords


FISH; genetic disorder; microdeletion; microduplication; kelainan genetik; mikrodelesi; mikroduplikasi

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References


Angelovska, S. et al., 2007. Implementation of fluorescent in situ hybridization (FISH) as method for detecting microdeletion syndromes- our first experiences. Sec. Bio. Med. Sci., MASA, 28(2), hal.87-97.

Bishop, R., 2010. Applications of fluorescence in situ hybridization (FISH) in detecting genetic aberrations of medical significance. Bioscience Horizons, 3, hal.85-95.

Devi, et al., 2005. FISH and GISH: modern cytogenetic techniques. Indian journal of biotechnology, 4, hal.307-315.

Halder, A. et al., 2013. Fluorescence in situ hybridization (FISH) using non-commercial probes in the diagnosis of clinically suspected microdeletion syndromes. Indian J Med Res., 138, hal.135-142.

Ivan, Y. et al., 2005. An Approach for quantitative assessment of fluorescence in situ hybridization (FISH) signal for applied human molecular cytogenetics. Journal of histochemistry & cytochemistry, 53(3), hal. 401-408.

Jeffrey, M. et al., 2003. Fluorescence in situ hybridization: past, present and future. Journal of Cell Science, 116, hal.2833-2838.

Karen, E.W. & Erik, C.T., 2011, Clinical Utility of Chromosomal Microarray Testing, Mayo Foundation for Medical Education and Research. Diunduh: 20 Desember 2013 dari http://www.mayomedicallaboratories.com/articles/communique/2011/03.html

Luthardt, W.F. & Keitges, E., 2001. Chromosomal syndrome and genetic disease. Encyclopedia of life science, hal.1-11.

Moore, M.C. & Best, G.R., 2001. Chromosomal genetic disease: structural aberrations. Encyclopedia Of Life Sciences. Diunduh: 17 november 2013 dari http://www.els.net/WileyCDA/ElsArticle/refId-a0001452.html.

Moter, A & Gobel, U.B., 2000. Invited review fluorescence in situ hybridization (FISH) for direct visualization of microorganisms. Journal of microbiological methods, 41, hal.85-112.

Obe, G. et al., 2002. Chromosomal aberrations: formation, identification and distribution. Mutation research, 504, hal.17-36.

Vogel, A & Fryns, P.J., 2004. Atlas of genetics and cytogenetics in oncology and haematology. Microdeletions and Molecular Genetic, Diunduh: 28 November 2013 dari http://AtlasGeneticsOncology.org/Educ/MicrodeletionID30059ES.html.

Volpi, V.E. & Bridger, M.J., 2008. FISH glossary: an overview of the fluorescence in situ hybridization technique. Biotechniques, 45, hal.385-409.


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