Variant of ataxia-telangiectasia with low-level radiosensitivity
- 1 July 1985
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 70 (3) , 274-277
- https://doi.org/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 blcomycin-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.Keywords
This publication has 24 references indexed in Scilit:
- Immune dysfunction is one of many defectsImmunology Today, 1984
- The effects of ionizing radiation on cell cycle progression in ataxia telangiectasiaMutation Research - Fundamental and Molecular Mechanisms of Mutagenesis, 1984
- Transformation and Repair Replication in Lymphocytes from Ataxia TelangiectasiaExperimental Biology and Medicine, 1983
- Effect of aphidicolin on de novo DNA synthesis, DNA repair and cytotoxicity in γ-irradiated human fibroblasts. Implications for the enhanced radiosensitivity in ataxia telangiectasiaBiochimica et Biophysica Acta (BBA) - Gene Structure and Expression, 1983
- Bleomycin-resistant DNA synthesis in ataxia telangiectasia cellsNature, 1981
- Diagnostic considerations in ataxia-telangiectasia.Archives of Disease in Childhood, 1979
- INCREASED SENSITIVITY TO GAMMA IRRADIATION OF SKIN FIBROBLASTS IN FRIEDREICH'S ATAXIAThe Lancet, 1979
- Ataxia telangiectasia: chromosomal stability in continuous lymphoblastoid cell linesCytogenetic and Genome Research, 1979
- SERUM-ALPHA-FETOPROTEIN LEVELS IN PATIENTS WITH ATAXIA-TELANGIECTASIAThe Lancet, 1972
- Chromosomal abnormalities in ataxia-telangiectasia (Louis Bar's syndrome)Human Genetics, 1970