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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address for reprints (C.K.): Queensland Institute of Medical Research, Brisbane 4006, Australia.
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CHEN, P., LAVIN, M., KIDSON, C. et al. Identification of ataxia telangiectasia heterozygotes, a cancer prone population. Nature 274, 484–486 (1978). https://doi.org/10.1038/274484a0
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DOI: https://doi.org/10.1038/274484a0
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