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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RESULTS
The chromosome fragility was evaluated by the
DEB test in 66 patients with clinical suspicion of FA.
The main criteria for the determination of chromosome
fragility were as follows: percentage of aberrant cells,
breaks/cell, breaks/aberrant cell. According to the
results of the DEB test, the patients were divided into
two subgroups: FA, displaying typical DEB sensitive
cellular response, and non FA. A summary of the results
obtained on spontaneous and DEB-induced fragility
for both subgroups (FA and non FA) and controls are
presented on Table 1. Ten (15.2%) out of 66 examined
patients were found to have a FA cellular phenotype
with increased number of DEB-induced chromatid
and chromosome breaks and a variety of chromatid
and chromosome interchanges (Figure 1, Table 2). The percentage of DEB-induced 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%). Patient No. 8 reached the maximal percentage
of DEB-induced aberrant cells of 82.00%, while the
minimal value was 22.00% in patient No. 10 (Table
2). 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/cells) (Table 1). Patient No. 8. displayed
the maximal value of 4.39 breaks/ cell and FA patient
No. 10 reached the minimal value of 0.26 breaks/
cell. Statistical analysis showed significant difference
between FA and non FA groups (Mann-Whitney test: p
<0.0001) and no overlapping (Figure 2).
The spontaneous chromosome fragility (percentage
of aberrant cells and breaks/cell) values in 10 FA patients
were overlapping those in non FA patients (Table 1).
Nine out of 10 FA patients showed an increased rate
of spontaneous breaks, while only one patient in this
group (patient No. 3.) had no spontaneous breaks
(Table 2). Thus, the mean percentage of spontaneous
aberrant cells in the FA group was 9.30% (range 0.00-
29.00%) and the mean value of spontaneous breaks/
cells was 0.12 (range 0.00-0.39) (Table 1). In the non
FA group of patients, the mean values of spontaneous
breakages were 0.93% for percentage of aberrant
cells (range 0.00-7.00%) and 0.01 for breaks/cell
(range 0.00-0.06) (Table 1). Because of overlapping,
these two groups could not be distinguished by the
spontaneous breakage. Controls and the non FA group displayed similar values of spontaneous chromosome
fragility with the mean percentage of aberrant cells
0.34% (range 0.00-3.00%) and the mean breaks/cell
0.00 (range 0.00-0.03) (Table 1).
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