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

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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