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通过体细胞融合对共济失调毛细血管扩张症进行基因互补分析。

Genetic complementation analysis of ataxia telangiectasia by somatic cell fusion.

作者信息

Jaspers N G, Bootsma D

出版信息

IARC Sci Publ. 1982(39):127-36.

PMID:7152605
Abstract

After cells from patients with ataxia telangiectasia (AT) have been exposed to ionizing radiation, the rate of semiconservative DNA replication is inhibited to a significantly lesser extent than in cells from normal individuals. This diminished inhibition of DNA synthesis is a general characteristic of irradiated AT cell strains, irrespective of their capacity to perform repair DNA synthesis after treatment with gamma-rays. Using the abnormal regulation of DNA replication in AT cells as a parameter, a procedure was developed that allows genetic complementation analysis of AT. The five AT cell strains that were investigated in this respect could be assigned to three complementation groups. The results show that an extensive genetic heterogeneity exists in the AT syndrome.

摘要

共济失调毛细血管扩张症(AT)患者的细胞在受到电离辐射后,半保留DNA复制速率受到的抑制程度明显低于正常个体的细胞。DNA合成抑制作用的减弱是受辐射的AT细胞株的一个普遍特征,无论它们在接受γ射线处理后进行修复性DNA合成的能力如何。以AT细胞中DNA复制的异常调控为参数,开发了一种可对AT进行遗传互补分析的方法。在这方面所研究的五株AT细胞株可被归入三个互补组。结果表明,AT综合征存在广泛的遗传异质性。

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