Summary
Lymphoblastoid cell lines (LCLs) derived from two patients identified as ataxia telangiectasia (AT), two obligate AT heterozygotes and two controls (healthy subjects with no known genetic disease or relationship to AT patients) were compared with respect to the induction of chromosomal breaks by acute and chronic γ-irradiation. Although there was a considerable increase in the frequency of chromosomal breaks per cell in the LCLs of AT patients resulting from acute irradiation, the small increase occurring in the LCLs of the AT heterozygotes made it difficult to distinguish them from the controls. Following chronic γ-irradiation, however, the frequency of chromosomal breaks per cell in the LCLs of the AT heterozygotes occupied a significantly distinct position from that of the controls. These observations suggested that the use of chronic irradiation may be a better choice in the cytogenetic characterization of AT heterozygotes.
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References
Boder E (1985) Ataxia-telangiectasia: an overview. In: Gatti RA, Swift M (eds) Ataxia-telangiectasia: genetics, neuropathology and imunology of a degenerative disease of childhood. Liss, New York, pp 1–63
Hannan MA, Smith BP, Sigut D, Rabe EF, Ozand PT, Ali MA, Amer MH (1989) Chronic gamma radiation sensitivity of skin fibroblasts from patients with non-Hodgkin's lymphoma. Mutat Res 226:44–56
Hannan MA, Smith BP, Sigut D, Sackey K (1990) Radiosensitivity of fibroblasts obtained from a café-au-lait spot and normal appearing skin of patient with neurofibromatosis (NF-VI). Cancer Genet Cytogenet (in press)
ISCN (1985) An international system for human cytogenetic nomenclature. Harnden DG, Klinger HP (eds) Published in collaboration with Cytogenet Cell Genet. Karger, Basel
Kidson C, Chen P, Imray P (1982) Ataxia-telangiectasia heterozygotes: dominant expression of ionizing radiation sensitive mutants. In: Bridges BA, Harnden DG (eds) Ataxia-telangiectasia — a cellular and molecular link between cancer, neuropathy, and immune deficiency. Wiley, New York, pp 363–372
Lehmann AR, Jaspers NGJ, Gatti RA (1987) Workshop on ataxia-telangiectasia. Cancer Res 47:4750–4751
Moorhead PS, Nowell PC, Mellman WJ, Battips DM, Hungerford DA (1960) Chromosome preparations of leukocytes cultured from human peripheral blood. Exp Cell Res 20:613–616
Nagasawa H, Kraemer KH, Shiloh Y, Little JB (1987) Detection of ataxia-telangiectasia heterozygous cell lines by post-irradiation cumulative labelling index: measurements with coded samples. Cancer Res 47:398–402
Natarajan AT, Meijers M, Zeeland AA van, Simons JWIM (1982) Attempts to detect ataxia-telangiectasia (AT) heterozygotes by cytogenetical techniques. Cytogenet Cell Genet 33:145–151
Neitzel H (1986) A routine method for the establishment of permanent growing lymphoblastoid cell lines. Hum Genet 73:320–326
Parshad R, Sanford KK, Jones GM, Tarone RE (1985) G2 chromosomal radiosensitivity of ataxia-telangiectasia heterozygotes. Cancer Genet Cytogenet 14:163–168
Paterson MC, Anderson AK, Smith BP, Smith PJ (1979) Enhanced radiosensitivity of cultured fibroblasts from ataxiatelangiectasia heterozygotes manifested by defective colony forming ability and reduced DNA repair replication after hypoxic γ-irradiation. Cancer Res 39:3725–3734
Paterson MC, MacFarlane SJ, Gentner NE, Smith BP (1985) Cellular hypersensitivity to chronic γ-radiation in cultured fibroblasts from ataxia-telangiectasia heterozygotes. In: Gatti RA, Swift M (eds) Ataxia-telangiectasia: genetics, neuropathology and immunology of a degenerative disease of childhood. Liss, New York, pp 73–87
Shiloh Y, Tabor E, Becker Y (1982) The response of ataxia-telangiectasia homozygous and heterozygous skin fibroblasts to neocarzinostatin. Carcinogenesis 3:815–820
Snedecor GW, Cochran WG (1980) Statistical methods. Iowa State University Press, Ames, Iowa, pp 208–213
Swift M, Chase C (1983) Cancer and cardiac deaths in obligatory ataxia-telangiectasia heterozygotes. Lancet 1:1049–1050
Swift M, Morrell D, Cromartie E, Chamberlin AR, Skolnick MH, Bishop DT (1986) The incidence and gene frequency of ataxiatelangiectasia in the United States. Am J Hum Genet 39:573–583
Swift M, Reitnauer PT, Morrell D, Chase CL (1987) Breast and other cancers in ataxia-telangiectasia families. N Engl J Med 316:1289–1294
Taylor AMR (1982) Cytogenetics of ataxia-telangiectasia. In: Bridges BA, Harnden DG (eds) Ataxia-telangiectasia — a cellular and molecular link between cancer, neuropathology, and immune deficiency. Wiley, New York, pp 53–81
Yunis JJ (1976) High resolution of human chromosomes. Science 191:1268–1270
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Waghray, M., Al-Sedairy, S., Ozand, P.T. et al. Cytogenetic characterization of ataxia telangiectasia (AT) heterozygotes using lymphoblastoid cell lines and chronic γ-irradiation. Hum Genet 84, 532–534 (1990). https://doi.org/10.1007/BF00210804
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DOI: https://doi.org/10.1007/BF00210804