A retarded rate of DNA chain growth in Bloom's syndrome.
The cytogenetic observation that homologous chromatid interchange occurs in Bloom's syndrome more often than normal prompted an investigation of DNA replication in that rare genetic disorder. Using DNA fiber autoradiography, an estimation was made of the rate of one component of ongoing DNA replication, DNA chain growth. The rate in Bloom's syndrome dermal fibroblasts in tissue culture was found to be significantly slower than that in normal control cells. (The rate was found to be normal in Fanconi's anemia cells.) The explanation for the retarded chain growth may be either that an enzyme concerned directly with semiconservative DNA replication is defective or that a defective enzyme not itself concerned directly with replication results in disturbed cellular metabolism which in turn affects replication.
D000015:Abnormalities, Multiple / Q000378:metabolism*; D000741:Anemia, Aplastic / Q000235:genetics / Q000378:metabolism; D002478:Cells, Cultured; D002648:Child; D004261:DNA Replication; D004392:Dwarfism / Q000378:metabolism; D005148:Facial Dermatoses / Q000378:metabolism*; D005347:Fibroblasts / Q000378:metabolism; D006801:Humans; D007700:Kinetics; D013577:Syndrome; D013684:Telangiectasis / Q000378:metabolism*