European Human Genetics Conference 2007 June 16 – 19, 2007 ...

Cytogenetics
University of Belgrade, Belgrade, Serbia, 3 Faculty of Medicine, University of
Belgrade, Belgrade, Serbia, 4 Mother and Child Health Care Institute of Serbia,
Belgrade, Serbia.
Fanconi anemia (FA) is an autosomal recessive disorder characterized
by bone-marrow failure and cancer susceptibility. Early studies
pointed to the specific sensitivity of FA cells to MMC and DEB which
became the tools for the current diagnostic tests for FA. Although
there is the long-standing clinical impression of radiosensitivity, in vitro
studies have yielded conflicting results. We exposed peripheral blood
mononuclear cells of FA patients (10 subjects) and carriers (20 subjects)
to γ-rays ( 60 Co), dose of 2 Gy in vitro with aim to determine their
radiosensitivity using CB micronucleus (MN) test. Incidence of spontaneous
occurring chromosomal aberrations and MN in unirradiatedcontrol
samples also was examined. Mean incidence of chromosomal
aberrations in FA patients was 0.088±0.08; which is 3.5 fold higher
than in carriers, baseline level of MN was 11.66±6.7 whereas average
incidence of radiation-induced micronuclei was 122.63±95.6. Baseline
level of micronuclei find in parents lymphocytes was 16.29±8.4 (fathers);
14.04±11.17 (mothers), which is 2.3 fold higher compared to
common population. Radioresponse of FA lymphocyte in vitro in most
cases corresponds to resistant in vitro response, (with exception of
one case where radiosensitive in vitro response was observed). Incidence
of spontaneously occurring chromosomal aberration highly
correlates with baseline incidence of MN, number of cell carrying aberrations
and radiosensitivity (r=0.81, p