Letter | Published:

Identification of ataxia telangiectasia heterozygotes, a cancer prone population

Nature volume 274, pages 484486 (03 August 1978) | Download Citation

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Abstract

IN ataxia telangiectasia (AT), an autosomal recessive disease of man with neurological, cutaneous and immunological abnormalities1, cells from homozygotes are sensitive to ionising radiation2 and have a low capacity to repair the resulting DNA damage3. Heterozygotes lack the main clinical features of the syndrome but share with homozygotes a high predisposition to cancer4. One study has demonstrated an increased level of chromosomal abnormalities in some heterozygotes5. Because these heterozygotes represent 1% of the population4 and cannot be diagnosed clinically, their characterisation represents a major challenge in cancer epidemiology. We report here the laboratory identification of a series of obligate heterozygotes for AT, based on the sensitivity of lymphoblastoid cell lines to ionising radiation.

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Author information

Affiliations

  1. Department of Biochemistry, University of Queensland, Brisbane 4067, Australia

    • PHILIP C. CHEN
    • , MARTIN F. LAVIN
    •  & CHEV KIDSON
  2. Present address and address for reprints (C.K.): Queensland Institute of Medical Research, Brisbane 4006, Australia.

    • PHILIP C. CHEN
    •  & CHEV KIDSON
  3. Queensland Institute of Medical Research, Brisbane 4006, Australia

    • DENIS MOSS

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DOI

https://doi.org/10.1038/274484a0

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