Human Genetics

, Volume 75, Issue 3, pp 197–208 | Cite as

Ataxia-telangiectasia: an inherited disorder of ionizing-radiation sensitivity in man

Progress in the elucidation of the underlying biochemical defect
  • P. J. McKinnon
Review Article

Summary

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.

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Copyright information

© Springer-Verlag 1987

Authors and Affiliations

  • P. J. McKinnon
    • 1
  1. 1.School of Biological SciencesThe Flinders University of South AustraliaBedford ParkAustralia

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