Radioresistant DNA synthesis and human genetic disease View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1989-05

AUTHORS

Babara R. Young, Robert B. Painter

ABSTRACT

Sixty-eight human fibroblast cell strains were assayed for radioresistant DNA synthesis (RDS), which is defined here as the absence of a steep component of inhibition of DNA synthesis in a dose-response curve when rate of DNA synthesis is plotted against radiation doses from 0 to 20 Gy or more. Twenty-seven strains from patients who were previously diagnosed to have ataxia-telangiectasia (AT) were positive for this feature. Among the cell strains that did not show RDS were two from AT obligate heterozygotes (i.e., the parents of AT patients), two from patients with Alzheimer disease, two from patients with Friedreich ataxia, one from a patient with Bloom syndrome, one from a patient with Down syndrome, and six from patients with various immunodeficiencies. Four strains demonstrated RDS that was less pronounced than in most AT cells: one was from a patient with Nijmegen breakage syndrome, one was from a patient without ataxia but with choreiform movement disorder, telangiectasia, and elevated concentrations of alpha-fetoprotein in the blood, and two were from AT patients. RDS therefore is not a necessary trait of human genetic diseases that involve radiosensitivity or immunodeficiency. Although recent reports suggest that some AT patients do not exhibit RDS, we found RDS in all the AT cells we tested. More... »

PAGES

113-117

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/bf00284040

DOI

http://dx.doi.org/10.1007/bf00284040

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1049361858

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/2722185


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