Bloom's Syndrome: Evidence for an Increased Mutation Frequency in Vivo
- 26 August 1983
- journal article
- Published by American Association for the Advancement of Science (AAAS) in Science
- Vol. 221 (4613) , 851-853
- https://doi.org/10.1126/science.6879180
Abstract
The incidence of lymphocytes resistant to the purine analog 6-thioguanine was studied in seven patients with Bloom's syndrome. The mean frequency was 17.3 X 10(-4). The mean incidence in age- and sex-matched controls was 2.1 X 10(-4), so approximately eight times the normal number of 6-thioguanine-resistant lymphocytes were detected in Bloom's syndrome blood. The basis for this increase is unknown, but the inherent genomic instability demonstrated in the form of chromosomal aberrations is one possible explanation.Keywords
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