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1981•Journal of Medical GeneticsOpen access

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

Niels Tommerup, Hanne Poulsen, Karen Brøndum‐Nielsen

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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.

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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.

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Available 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.

Key concepts: Thymidylate synthase, Xq28, Chromosomal fragile site, Deoxyuridine, Fragile x, Biology, X chromosome, Genetics

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5-Fluoro-2'-deoxyuridine induction of the fragile site on Xq28 associated with X linked mental retardation. — Research Paper | ScholarLens