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影响DNA修复的遗传性疾病中的DNA聚合酶α、β和γ

DNA polymerases alpha beta and gamma in inherited diseases affecting DNA repair.

作者信息

Bertazzoni U, Scovassi A I, Stefanini M, Giulotto E, Spadari S, Pedrini A M

出版信息

Nucleic Acids Res. 1978 Jun;5(6):2189-96. doi: 10.1093/nar/5.6.2189.

Abstract

Fibroblasts derived from patients with diseases affecting DNA repair processes, such as Xeroderma Pigmentosum (classical and variant), Fanconi's anemia, Bloom's syndrome, Ataxia Telangiectasica, Progeria and Werner's syndrome, were assayed for the three DNA polymerases. The specific activities of these enzymes were found within the limits observed in normal human fibroblasts. Also the sedimentation properties of the three polymerases were unaltered.

摘要

对来自患有影响DNA修复过程疾病的患者的成纤维细胞进行了三种DNA聚合酶的检测,这些疾病包括色素性干皮病(经典型和变异型)、范可尼贫血、布卢姆综合征、共济失调毛细血管扩张症、早老症和沃纳综合征。发现这些酶的比活性在正常人成纤维细胞所观察到的范围内。这三种聚合酶的沉降特性也未改变。

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