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 Gv), the role of this particular aberration in the development of a radiation-induced leukemia remains obscure.
Mots-clés Pascal : Chromosome Ph1, Chromosome anormal, Aberration chromosomique, Centrale nucléaire, Exposition professionnelle, Irradiation(personne), Dose forte, Réacteur fusion nucléaire, Rayonnement nucléaire, Accident, Homme, Lymphocyte, Gène onc, Chromosome G22 anormal, Chromosome C9 anormal, Mutation, Gène, Réarrangement génique, Translocation chromosomique, Maladie professionnelle, Génétique, Biologie moléculaire
Mots-clés Pascal anglais : Philadelphia chromosome, Abnormal chromosome, Chromosomal aberration, Nuclear power plant, Occupational exposure, Radiation exposure(person), High dose, Nuclear fusion reactor, Nuclear radiation, Accident, Human, Lymphocyte, Onc gene, Abnormal chromosome G22, Abnormal chromosome C9, Mutation, Gene, Gene rearrangement, Chromosome translocation, Occupational disease, Genetics, Molecular biology
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 98-0345875
Code Inist : 002B30B01B. Création : 27/11/1998.