5-氟-2'-脱氧尿苷诱导与X连锁智力迟钝相关的Xq28脆性位点。
5-Fluoro-2'-deoxyuridine induction of the fragile site on Xq28 associated with X linked mental retardation.
作者信息
Tommerup N, Poulsen H, Brøndum-Nielsen K
出版信息
J Med Genet. 1981 Oct;18(5):374-6. doi: 10.1136/jmg.18.5.374.
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.
摘要
5-氟-2'-脱氧尿苷（FUdR）被发现对诱导与智力迟钝相关的Xq28上的遗传性脆性位点非常有效。来自两名受影响男性的淋巴细胞在FUdR存在的情况下生长时，在30%至40%的有丝分裂中表现出脆性位点。这一观察结果表明，通过抑制胸苷酸合成酶使dTMP库耗竭是Xq28上遗传性脆性位点表达的原因。
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