Bloom's syndrome: evidence for an increased mutation frequency in vivo

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Science  26 Aug 1983:
Vol. 221, Issue 4613, pp. 851-853
DOI: 10.1126/science.6879180


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.