Shoyab M, Gunnell M, Lubiniecki A S
Hum Genet. 1981;57(3):296-9. doi: 10.1007/BF00278948.
Uptake of 3H-thymidine and its incorporation into DNA was studied in fibroblastic cell lines derived from normal individuals, patients with Fanconi anemia, and those heterozygous for this genetic trait. Uptake and incorporation for the normal cells were about five and seven times higher, respectively, than for Fanconi anemia fibroblasts; mean values for heterozygotes were intermediate. This effect was dependent on the duration of cell exposure to 3H-thymidine and was not observed with other labeled compounds. Thus a genetically-determined metabolic defect may exist in Fanconi anemia patients which can be readily studied at the cellular level. This finding may be relevant to the observed clinical, cytogenetic, biochemical, and biologic properties related to expression of the Fanconi anemia gene.
在源自正常个体、范可尼贫血患者以及该遗传性状杂合子的成纤维细胞系中，研究了³H-胸腺嘧啶核苷的摄取及其掺入DNA的情况。正常细胞的摄取和掺入分别比范可尼贫血成纤维细胞高约5倍和7倍；杂合子的平均值介于两者之间。这种效应取决于细胞暴露于³H-胸腺嘧啶核苷的持续时间，而其他标记化合物未观察到这种效应。因此，范可尼贫血患者可能存在一种由基因决定的代谢缺陷，这可以在细胞水平上很容易地进行研究。这一发现可能与观察到的与范可尼贫血基因表达相关的临床、细胞遗传学、生化和生物学特性有关。
