5-Fluoro-2'-deoxyuridine induction of the fragile site on Xq28 associated with X linked mental retardation. Issue 5 (October 1981)

• Record Type: Journal Article
• Authors: Tommerup, N; Poulsen, H; Brøndum-Nielsen, K
• Is Part Of: Journal of medical genetics. Volume 18:Issue 5(1981)
• Page Start: 374
• Page End: 376
• Publication Date: 1981-10
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.18.5.374
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : 5-Fluoro-2'-deoxyuridine (FUdR) was found to be highly effective in inducing the heritable fragile site on Xq28 associated with mental retardation. Lymphocytes from two affected males manifested the fragile site in 30 to 40% of the mitoses when grown in the presence of FUdR. This observation suggests that depletion of the dTMP pool via thymidylate synthetase inhibition is responsible for the expression of the heritable fragile site on Xq28.