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三种人类染色体不稳定综合征细胞株中的脱氧核糖核苷三磷酸池水平:共济失调毛细血管扩张症(GM2052)、布卢姆综合征(GM1492)和范科尼贫血(GM368)。

Deoxyribonucleoside triphosphate pool levels in three cell strains of human chromosome instability syndromes: ataxia telangiectasia (GM2052), Bloom's syndrome (GM1492), and Fanconi's anemia (GM368).

作者信息

Kenne K, Akerblom L

机构信息

Department of Medical Cell Genetics, Karolinska Institutet, Stockholm, Sweden.

出版信息

Cancer Biochem Biophys. 1990 Jan;11(1):69-77.

PMID:2337882
Abstract

Deoxyribonucleoside triphosphate (dNTP) pool sizes were determined in cell strains derived from patients with the genetic diseases ataxia telangiectasia (GM2052), Bloom's syndrome (GM1492), and Fanconi's anemia (GM368), and were compared to the dNTP pools in a normal human fibroblast cell strain (253/79). In addition, the effect of deoxythymidine on both dNTP pool levels and cell growth was examined. The three mutant cell strains differed only slightly from the normal cell strain. The cellular characteristics of the cell strains, such as chromosome instability, are apparently not an effect of dNTP pool imbalance.

摘要

测定了患有遗传性疾病共济失调毛细血管扩张症(GM2052)、布卢姆综合征(GM1492)和范科尼贫血症(GM368)患者来源的细胞株中的脱氧核糖核苷三磷酸(dNTP)库大小,并与正常人成纤维细胞株(253/79)中的dNTP库进行了比较。此外,还研究了脱氧胸苷对dNTP库水平和细胞生长的影响。这三种突变细胞株与正常细胞株仅有轻微差异。细胞株的细胞特征,如染色体不稳定性,显然不是dNTP库失衡的结果。

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