title: Diagnosis of Fanconi's anemia by flow cytometry.
abstract: FA is a progressive bone marrow aplasia genetically transmitted by a recessive autosomal gene or genes. In our laboratory, cytogenetic diagnosis is based on evaluation of the chromosomal breakage of mitotic cell derived from patient blood-cell cultures and sensitized by nitrogen mustard (NM). We have observed, in parallel with this test, fluctuations of the cell cycle of PHA- stimulated peripheral blood lymphocytes from FA patients as compared with controls. FA cells treated with NM show a dramatic and significant increase in G2/M phase after 72 hr in vitro culture, compared with untreated or control cells (normal controls and non-FA patients). This test is rapid and simple, as it consists in staining cells with a DNA dye (propidium iodide), followed by a flow cytometry analysis of the cell cycle phases. Our results in twelve patients are correlated with the cytogenetic results.
authors.affiliation: Laboratoire de Cytométrie en Flux, Institut d'Hématologie, Hôpital Saint-Louis, Paris, France.
authors.forename: R
authors.initials: R
authors.lastname: Miglierina
authors.forename: M
authors.initials: M
authors.lastname: Le Coniat
authors.forename: M
authors.initials: M
authors.lastname: Gendron
authors.forename: R
authors.initials: R
authors.lastname: Berger
mesh_terms: D002453:Cell Cycle / Q000187:drug effects; D002869:Chromosome Aberrations; D004247:DNA / Q000032:analysis*; D005199:Fanconi Anemia / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D005434:Flow Cytometry; D006579:Heterozygote; D006801:Humans; D008213:Lymphocyte Activation / Q000187:drug effects; D008214:Lymphocytes / Q000187:drug effects / Q000473:pathology*; D008466:Mechlorethamine / Q000494:pharmacology; D010835:Phytohemagglutinins / Q000494:pharmacology; D011237:Predictive Value of Tests
chemical_list: D010835:Phytohemagglutinins; D008466:Mechlorethamine; D004247:DNA