INCREASED LEVEL OF BLEOMYCIN-INDUCED CHROMOSOME BREAKAGE IN ATAXIA TELANGIECTASIA SKIN FIBROBLASTS

  • 1 January 1983
    • journal article
    • research article
    • Vol. 43  (9) , 4244-4247
Abstract
Ataxia telangiectasia (AT) is an autosomal recessive disorder in which increased level of chromosome breakage and specific sensitivity to radiation and carcinogens have been reported. The effect of the radiomimetic drug bleomycin on chromosome breakage was tested in skin fibroblasts of 3 patients with AT, 2 AT obligate heterozygotes, 2 normal human controls and 1 normal amniotic fluid cell culture. Bleomycin in 2 concentrations (1 and 5 .mu.g/ml) was added for 1 h and cultures were harvested 4 h later. A significant increase in chromosome damage was found in AT fibroblasts: a higher number of total breaks per cell, affected cells, and breaks per affected cell was found. The heterozygotes did not differ significantly from the controls. Chromosome breakage in skin fibroblasts of AT patients after bleomycin treatment has not been reported here. [The use of bleomycin for the cytogenetic diagnosis of AT was noted.].

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