DIAGNOSIS OF FANCONI’S ANEMIA BY DIEPOXYBUTANE
ANALYSIS IN CHILDREN FROM SERBIA
Cirkovic S1,*, Guc-Scekic M1,2, Vujic D3,5, Ilic N1, Micic D4, Skoric D6, Jovanovic A4
*Corresponding Author: Sanja Cirkovic, Department of Medical Genetics, Mother and Child Health Care
Institute of Serbia “Dr Vukan Cupic”, Radoja Dakica 6-8 st., 11070 Belgrade, Serbia; Tel.: +381-11-3108-273;
Mobile tel.: +381-62-860-1180; E-mail: genetikaimd@beotel.rs, sanja.s.cirkovic@gmail.com
page: 65
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Abstract
The high sensitivity of Fanconi’s anemia (FA)
cells to drug induced DNA interstrand crosslinks (ICL)
such as diepoxybutane (DEB) was used as a part of FA
screening in the children with clinical suspicion of FA.
The study considered a total of 66 children with the
hematological and/or congenital phenotypic symptoms
reminiscent of FA. Blood samples from patients with
clinical suspicion of FA and controls were collected
for chromosome fragility evaluation by the DEB test.
According to the results of DEB test, the patients were
divided into two subgroups: FA displaying typical
DEB sensitive cellular response and non FA.
In this study, 10 out of 66 patients were found to
have a FA cellular phenotype. The percentage of DEBinduced
aberrant cells was increased more than 26
times in FA patients (range 22.00-82.00% with a mean
of 48.32%) when compared to non FA patients (range
0.00-12.00% with a mean of 1.84%). The number of
DEB-induced breaks/ cells was more than 68 times
higher in FA patients (range 0.26-4.39 with a mean of
1.37 breaks/cell) when compared to non FA patients
(range 0.00-0.20 with a mean of 0.02 breaks/cell).
The spontaneous chromosome fragility values in FA
patients were overlapping those in non FA patients.
Our results indicate that the DEB sensitivity test is the
most reliable in vitro method for verification of the FA
cellular phenotype.
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