Fanconi Anemia, Chromosomal Fragility, Ionizing Radiation, DEB-test, MMC


Fanconi Anemia (FA) is a syndrome associated with chromosomal fragility. Current laboratory tests to diagnose this disease are based on the scoring of chromosomal aberrations induced in peripheral blood lymphocytes by clastogenic chemical agents, mainly: diepoxybutane (DEB) or mitomycin C (MMC). This study evaluated an alternative test for the diagnosis of FA, in which ionizing radiation replaces DEB/MMC. Two groups were studied: normal and DEB-sensitive individuals. From each individual, samples of peripheral blood were irradiated using an electron linear accelerator. Following lymphocyte cultures, and slide preparation, metaphases were scored based on the same methodology for biological dosimetry, according to recommendations of the International Atomic Energy Agency. Our results emphasized a pattern of distribution of dicentrics, fragments, as well as abnormal chromosomal arrangements. The methodology of analysis here proposed permitted to distinguish normal from DEB-sensitive subjects.


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Gordon EC, Rutherford TR. Fanconi anaemia-constitutional, familial aplastic anaemia. Bailleres Clin Haematol. 1989;2:139-51.

Auerbach AD. Fanconi anemia and its diagnosis. Mutat Res. 2009;668:4-10.

Fargo JH, Rochowski A, Giri N, Savage SA, Olson SB, Alter BP. Comparison of Chromosome Breakage in Non-Mosaic and Mosaic Patients with Fanconi Anemia, Relatives, and Patients with Other Inherited Bone Marrow Failure Syndromes. Cytogenet Genome Res. 2014;144(1):15-27.

Auerbach AD. Diagnosis of Fanconi anemia by diepoxybutane analysis. Curr Protoc Hum Genet. 2015 Apr 1;85(1):8.7.1-8.7.17.

Dextraze ME, Gantchev T, Girouard S, Hunting D. DNA interstrand cross-links induced by ionizing radiation: an unsung lesion. Mutat Res. 2009;704(1-3):101-7.

Saraswathy R, Natarajan AT. Frequencies of X-ray induced chromosome aberrations in lymphocytes of xeroderma pigmentosum and Fanconi anemia patients estimated by Giemsa and fluorescence in situ hybridization staining techniques. Int J Genet Mol Biol. 2000;23(4):893-99.

Barquinero JF, Barrios L, Ribas M, Egozcue J, Caballín MR. Cytogenetic sensitivity of three Fanconi anemia heterozygotes to bleomycin and ionizing radiation. Cancer Genet Cytogenet. 2001;124:80-83.

Mohseni-Meybodi A, Mozdarani H, Vosough, P. Cytogenetic sensitivity of G0 lymphocytes of Fanconi anemia patients and obligate carriers to mitomycin C and ionizing radiation. Cytogenet Genome Res. 2007;119(4):191-5.

Francies FZ, Wainwright R, Poole J, De Leeneer K, Coene I, Wieme G, et al. Diagnosis of Fanconi Anaemia by ionising radiation- or mitomycin C-induced micronuclei. DNA Repair (Amst). 2018;61:17-24.

Bender MA, Awa AA, Brooks AL, Evans HJ, Groer PG, Littlefield LG, et al. Current status of cytogenetic procedures to detect and quantify previous exposures to radiation. Mutat Res. 1988;196:103-59.

Lloyd DC, Edwards AA, Prosser JS. Chromosome aberration induced in human lymphocytes by in vitro acute x gamma radiation. Radiat Prot Dosim. 1986;15:83-88.

Lemos-Pinto MM, Santos NF, Amaral A. Current status of biodosimetry based on standard cytogenetic methods. Radiat Environ Biophys. 2010;49(4):567-81.

Amaral A. Trends in biological dosimetry: an overview. Braz Arch Biol Tech. 2002;45:119-24.

International Atomic Energy Agency. Cytogenetic dosimetry: applications in preparedness for and response to radiation emergencies. Vienna: Scientific and Technical Publications; 2011.

Henegariu O, Heerema NA, Lowe WL, Bray-Ward P, Ward DC, Vance GH. Improvements in cytogenetic slide preparation: controlled chromosome spreading, chemical aging and gradual denaturing. Cytometry. 2001;43:101-9.

Doloy MT, Malarbet JL, Guedeney G, Bourguignon M, Leroy A, Reillaudou M, et al. Use of unstable chromosome aberrations for biological dosimetry after the first postirradiation mitosis. Radiat Res. 1991;125:141-51.

Lemos-Pinto MM, Cadena M, Santos N, Fernandes TS, Silva EB, Amaral A. Dose-response curve for biodosimetry from a 6 MV electron linear accelerator. Braz J Med Biol Res. 2015;48(10):908-14.

Oostra AB, Nieuwint AWM, Joenje H, Winter JP. Diagnosis of Fanconi Anemia: Chromosomal Breakage Analysis. Anemia. 2012;2012:1-9.




How to Cite

Amaral, A., De Lima , S., Silva , L., Lemos-Pinto , M., Lucena , L., Marques-Salles , T., Silva, E., & Magnata , S. (2019). A NEW METHODOLOGY FOR DIAGNOSIS OF FANCONI ANEMIA BASED ON BIOLOGICAL DOSIMETRY. Archives in Biosciences & Health, 1(2), 189–200. https://doi.org/10.18593/abh.23125



Articles - Original research