Balkan Journal of Medical Genetics

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

MATERIALS AND METHODS

Patients and Samples. From February 2004 until March 2011, 66 children (41 boys and 25 girls, aged from one to 18 years) suspected of having FA were diagnosed and treated at the Mother and Child Health Care Institute of Serbia “Dr. Vukan Cupic” and the University Children’s Hospital, Belgrade, Serbia. These are the two largest pediatric hospitals in Serbia that cover about 80% of FA patients. Blood samples from patients with clinical suspicion of FA and controls (healthy children of the same age as patients and other healthy individuals) were collected for chromosome fragility evaluation by the DEB test. Clinical data from patients with suspicion of FA were obtained from their clinicians, including age of onset of hematological disease and family screening results. 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. The Diepoxybutane Test. The DEB sensitivity test on peripheral blood lymphocytes was performed using standard procedure [11,12,14] with minor modifications. Four blood cultures were prepared for each patient. Forty-eight hours after the culture set-up, two cultures were treated with DEB at a final concentration of 0.1 mg/mL [12], and the remaining cultures were left for spontaneous chromosome fragility evaluation. Cells were harvested 72 hours after initiation with the presence of colcemid during the last 2 hours (2.5 mg/ mL). Staining with Giemsa solution was applied [12]. A total of 100 metaphase cells per subject were scored and analyzed for chromosome and chromatid aberrations, according to the International System for Human Cytogenetic Nomenclature (ISCN) [15]. Chromatid and chromosome breaks, and acentric fragments were scored as one break. Dicentric and ring chromosomes and radial figures were scored as two breaks [14,16]. Chromosome fragility evaluation parameters were: percentage of aberrant cells, number of breaks per cell and number of breaks per aberrant cell. Statistical Analyses. In a discriminatory analysis, Chi square test was used to evaluate the significance of difference between examined cultures of patients [14] and healthy controls. The FA and non FA groups were distinguished by cut-off values forming ranges as previously described [16].

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