Enhanced Frequency of Sister Chromatid Exchanges Induced By Diepoxybutane Is Specific Characteristic of Fanconi Anemia Cellular Phenotype
Authors
Joksić, IvanaPetrović, Sandra
Leskovac, Andreja
Filipović, Jelena G.
Guć-Šćekić, Marija
Vujić, Dragana
Joksić, Gordana
Article (Published version)
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Fanconi anemia (FA) is a rare genetically heterogeneous disease characterized by developmental abnormalities, progressive bone marrow failure, and cancer susceptibility. We examined spontaneous, diepoxybutane (DEB)-induced and radiation-induced sister chromatid exchanges (SCEs) in wholeblood lymphocyte cultures of bone marrow failure (BMF) patients including Fanconi anemia, mothers of affected individuals, and healthy controls. The baseline frequency of SCE in FA cells was similar to that observed in controls. However, in response to DEB SCE frequencies in FA patients and their mothers were significantly increased compared to both non-FA BMF families and healthy controls. In response to ionizing radiation, cells displayed increased frequency of SCE, but no differences between FA patients and non-FA BMF patients were seen. Our data confirm and expand previous findings by showing that SCE induced by DEB can be used as an adjunct diagnostic test not only for FA patients, but also for fema...le heterozygous carriers, at least for complementation groups FANCA and FANCD2.
Keywords:
diepoxybutane / Fanconi anemia lymphocytes / ionizing radiation / sister chromatid exchangeSource:
Genetika, 2013, 45, 2, 393-403Funding / projects:
- Radiosensitivity of human genome (RS-MESTD-Basic Research (BR or ON)-173046)
DOI: 10.2298/GENSR1302393J
ISSN: 0534-0012; 1820-6069
WoS: 000328504900010
Scopus: 2-s2.0-84891503632
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VinčaTY - JOUR AU - Joksić, Ivana AU - Petrović, Sandra AU - Leskovac, Andreja AU - Filipović, Jelena G. AU - Guć-Šćekić, Marija AU - Vujić, Dragana AU - Joksić, Gordana PY - 2013 UR - https://vinar.vin.bg.ac.rs/handle/123456789/5798 AB - Fanconi anemia (FA) is a rare genetically heterogeneous disease characterized by developmental abnormalities, progressive bone marrow failure, and cancer susceptibility. We examined spontaneous, diepoxybutane (DEB)-induced and radiation-induced sister chromatid exchanges (SCEs) in wholeblood lymphocyte cultures of bone marrow failure (BMF) patients including Fanconi anemia, mothers of affected individuals, and healthy controls. The baseline frequency of SCE in FA cells was similar to that observed in controls. However, in response to DEB SCE frequencies in FA patients and their mothers were significantly increased compared to both non-FA BMF families and healthy controls. In response to ionizing radiation, cells displayed increased frequency of SCE, but no differences between FA patients and non-FA BMF patients were seen. Our data confirm and expand previous findings by showing that SCE induced by DEB can be used as an adjunct diagnostic test not only for FA patients, but also for female heterozygous carriers, at least for complementation groups FANCA and FANCD2. T2 - Genetika T1 - Enhanced Frequency of Sister Chromatid Exchanges Induced By Diepoxybutane Is Specific Characteristic of Fanconi Anemia Cellular Phenotype VL - 45 IS - 2 SP - 393 EP - 403 DO - 10.2298/GENSR1302393J ER -
@article{ author = "Joksić, Ivana and Petrović, Sandra and Leskovac, Andreja and Filipović, Jelena G. and Guć-Šćekić, Marija and Vujić, Dragana and Joksić, Gordana", year = "2013", abstract = "Fanconi anemia (FA) is a rare genetically heterogeneous disease characterized by developmental abnormalities, progressive bone marrow failure, and cancer susceptibility. We examined spontaneous, diepoxybutane (DEB)-induced and radiation-induced sister chromatid exchanges (SCEs) in wholeblood lymphocyte cultures of bone marrow failure (BMF) patients including Fanconi anemia, mothers of affected individuals, and healthy controls. The baseline frequency of SCE in FA cells was similar to that observed in controls. However, in response to DEB SCE frequencies in FA patients and their mothers were significantly increased compared to both non-FA BMF families and healthy controls. In response to ionizing radiation, cells displayed increased frequency of SCE, but no differences between FA patients and non-FA BMF patients were seen. Our data confirm and expand previous findings by showing that SCE induced by DEB can be used as an adjunct diagnostic test not only for FA patients, but also for female heterozygous carriers, at least for complementation groups FANCA and FANCD2.", journal = "Genetika", title = "Enhanced Frequency of Sister Chromatid Exchanges Induced By Diepoxybutane Is Specific Characteristic of Fanconi Anemia Cellular Phenotype", volume = "45", number = "2", pages = "393-403", doi = "10.2298/GENSR1302393J" }
Joksić, I., Petrović, S., Leskovac, A., Filipović, J. G., Guć-Šćekić, M., Vujić, D.,& Joksić, G.. (2013). Enhanced Frequency of Sister Chromatid Exchanges Induced By Diepoxybutane Is Specific Characteristic of Fanconi Anemia Cellular Phenotype. in Genetika, 45(2), 393-403. https://doi.org/10.2298/GENSR1302393J
Joksić I, Petrović S, Leskovac A, Filipović JG, Guć-Šćekić M, Vujić D, Joksić G. Enhanced Frequency of Sister Chromatid Exchanges Induced By Diepoxybutane Is Specific Characteristic of Fanconi Anemia Cellular Phenotype. in Genetika. 2013;45(2):393-403. doi:10.2298/GENSR1302393J .
Joksić, Ivana, Petrović, Sandra, Leskovac, Andreja, Filipović, Jelena G., Guć-Šćekić, Marija, Vujić, Dragana, Joksić, Gordana, "Enhanced Frequency of Sister Chromatid Exchanges Induced By Diepoxybutane Is Specific Characteristic of Fanconi Anemia Cellular Phenotype" in Genetika, 45, no. 2 (2013):393-403, https://doi.org/10.2298/GENSR1302393J . .