McKinnon P J
Hum Genet. 1987 Mar;75(3):197-208. doi: 10.1007/BF00281059.
This review summarizes the current research on the biochemical defect leading to ataxia-telangiectasia (AT). A DNA repair defect has been linked to AT, although the precise defect has not been found. A critical examination of the evidence for and against a DNA repair defect in AT is presented. Consideration of other recent data on AT raises the possibility that AT may not primarily be the result of a DNA repair defect. Therefore, in this review AT is approached as a syndrome which is defective in the ability to respond to ionizing-radiation-type damage, rather than defective in the ability to repair this damage. However, this does not necessarily exclude the potential involvement of a DNA repair defect in some of the genetically distinct subsets present in AT. Other recent anomalies found in AT, including an altered cell cycle and DNA synthesis profile following ionizing-radiation damage, are also assessed. A suggestion to account for the underlying defect in AT, based on the various research reports, is presented.
本综述总结了目前关于导致共济失调毛细血管扩张症（AT）的生化缺陷的研究。尽管尚未发现确切的缺陷，但DNA修复缺陷已与AT相关联。本文对支持和反对AT存在DNA修复缺陷的证据进行了批判性审视。对AT的其他近期数据的考量提出了一种可能性，即AT可能并非主要由DNA修复缺陷导致。因此，在本综述中，AT被视为一种在应对电离辐射型损伤的能力方面存在缺陷的综合征，而非在修复这种损伤的能力方面存在缺陷。然而，这并不一定排除DNA修复缺陷在AT中某些基因上不同的亚群中可能存在的潜在参与。还评估了AT中最近发现的其他异常情况，包括电离辐射损伤后细胞周期和DNA合成谱的改变。基于各种研究报告，提出了一个解释AT潜在缺陷的建议。
