Variant of ataxia-telangiectasia with low-level radiosensitivity

Hum Genet. 1985;70(3):274-7. doi: 10.1007/BF00273456.

Abstract

In the present study we examined cells from several patients clinically diagnosed as having ataxia-telangiectasia (AT), for the capacity of their cells to inhibit DNA synthesis following exposure to gamma irradiation, and for the rate of spontaneous or bleomycin-induced chromosomal aberrations. Cells from two patients showed normal inhibition of DNA synthesis and levels of induced chromosomal aberrations intermediate between normal and AT cells. These two patients had only minimal immunologic impairment. These findings appear to define one distinct subset of AT.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Ataxia Telangiectasia / genetics*
  • Ataxia Telangiectasia / immunology
  • Ataxia Telangiectasia / metabolism
  • Bleomycin / pharmacology
  • Child
  • Chromosome Aberrations / drug effects
  • Chromosome Aberrations / radiation effects
  • DNA / biosynthesis
  • DNA / radiation effects*
  • Female
  • Gamma Rays
  • Humans
  • In Vitro Techniques
  • Lymphocytes / ultrastructure
  • Male
  • Radiation Tolerance*

Substances

  • Bleomycin
  • DNA