Plasma ultrafiltrates from Fanconi Anemia patients induces chromosomal breakages in donor lymphocytes
- CNRS and Univ. Pierre et Marie Curie, Paris (France)
- Italian Association for Fanconi Anemia Research, Naples (Italy); and others
The present study investigated the occurrence, if any, of transferable clastogenic activity in the plasma from Fanconi Anemia (FA) patients and their families. A total of 13 FA homozygotes, 25 parents, and 12 siblings were studied for their: (a) spontaneous and DEB-induced chromosomal instability, and (b) induction of chromosomal breaks in peripheral blood lymphocytes (PBL) from healthy donors, following exposure to plasma ultrafiltrates from FA subjects, their parents or siblings. Plasma was ultrafiltered through membranes with a cutoff at 10,000 daltons (YM 10 Amicon) and 0.25 ml-aliquote added to PBL from 14 healthy donors. DEB test provided FA confirmatory diagnosis. The occurrence of clastogenic factors (CF) was evident in all FA patients, except for one. In two out of three patients, who died during this study, very high CF levels were observed. Clastogenic activity was significantly higher in male than in female patients (p<0.05). No correlation was observed between CF data and spontaneous or DEB-induced chromosomal instability. Ultrafiltrates from parents and siblings showed less CF than FA homozygotes; however, concentration by ultrafiltration through YM 2 (3x to 5x) led to excess clastogenic activity. The control plasmas were lacking CF even after an 8x concentration. The present data suggest that CF formation in the plasma of FA patients is consistent with an in vivo prooxident state in FA.
- OSTI ID:
- 133671
- Report Number(s):
- CONF-941009--
- Journal Information:
- American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: Suppl.3 Vol. 55; ISSN AJHGAG; ISSN 0002-9297
- Country of Publication:
- United States
- Language:
- English
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