Molecular genetic characterization of the Philadelphia chromosome detected in reactor personnel highly exposed to radiation from the Chernobyl accident.
Clonal del(22q) chromosome aberrations were coincidentally observed in highly exposed reactor personnel of the Chernobyl power plant accident in the course of retrospective biological dosimetry. These aberrant chromosomes were detected in PHA-stimulated cultures from peripheral blood after FPG staining and revealed a morphology similar to a Philadelphia chromosome. A rearrangement of the BCR gene on 22q11 could be confirmed in unstimulated peripheral blood by RFLP analysis from three of four del(22q) carrying cases. FISH analysis of the del(22q) carrying cases with BCR- and ABL-specific DNA probes additionally exhibited a BCR-ABL fusion in 5.2 to 9% of cells in unstimulated blood. Breakpoints within the BCR gene could be located either in the M-bcr or the m-bcr region and thus, a specific breakpoint region could not be detected in these four patients. Since typical clinical leukemic symptoms associated with the translocation (9;22)(q24;q11) could not be observed in these highly irradiated subjects (1.1 to 5.8 Gy), the role of this particular aberration in the development of a radiation-induced leukemia remains obscure.
Institute of Radiobiology, GSF-National Research Center for Environment and Health, Neuherberg, Germany.
H
H
Zitzelsberger
H
H
Hessel
K
K
Salassidis
H
H
Mittermüller
M
M
Bauchinger
D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D016044:Fusion Proteins, bcr-abl / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007399:Interphase; D008677:Metaphase; D010677:Philadelphia Chromosome; D011210:Power Plants; D018788:Radioactive Hazard Release; D014455:Ukraine
D016044:Fusion Proteins, bcr-abl