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Fanconi Anemia pp 105–136Cite as

Variation in Cellular Sensitivities Among Fanconi Anemia Patients, Non-Fanconi Anemia Patients, Their Parents and Siblings, and Control Probands

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Abstract

The well-documented spontaneous chromosomal breakage in Fanconi anemia (FA) patients varies considerably from patient to patient, but also within the individual during the course of the disease, and is not correlated with the state of health or with the treatment (Schroeder et al. 1976; Schroeder 1982).

This study is supported by the Deutsehe Forschungsgemeinschaft. T.H.Zhu and Y.Hong were in receipt of grants from the People’s Republic of China.

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References

  • Auerbach AD, Wolman SR (1976) Susceptibility of Fanconi’s anemia fibroblasts to chromosome damage by carcinogens. Nature 261: 494–496

    Article  PubMed  CAS  Google Scholar 

  • Auerbach AD, Wolman SR (1978) Carcinogen-induced chromosomal breakage in Fanconi’s anaemia heterozygous cell. Nature 271: 69–71

    Article  PubMed  CAS  Google Scholar 

  • Auerbach AD, Wolman SR (1979) Carcinogen-induced chromosome breakage in chromosome instability syndromes. Cancer Genet Cytogenet 1: 21–28

    Article  CAS  Google Scholar 

  • Auerbach AD, Adler B, Chaganti RSK (1981) Prenatal and postnatal diagnosis and carrier detection of Fanconi anemia by a cytogenetic method. Pediatrics 67: 128–135

    PubMed  CAS  Google Scholar 

  • Auerbach AD, Sagi M, Adler B (1985) Fanconi anemia: prenatal diagnosis in 30 fetuses at risk. Pediatrics 76: 794–800

    PubMed  CAS  Google Scholar 

  • Auerbach AD, Zhang M, Ghosh R, Pergament E, Verlinsky Y, Nicholas H, Boue J (1986) Clastogen-induced chromosomal breakage as a marker for first trimester prenatal diagnosis of Fanconi anemia. Hum Genet 73: 86–88

    Article  PubMed  CAS  Google Scholar 

  • Chan JYH, Becker FF, German J, Ray JH (1987) Altered DNA ligase I activity in Bloom’s syndrome cells. Nature 325: 357–359

    Article  PubMed  CAS  Google Scholar 

  • Digweed M, Zakrzewski-Lüdcke S, Sperling K (1988) Fanconi’s anaemia: correlation of genetic complementation group with psoralen/UVA response. Hum Genet 78: 51–54

    Article  PubMed  CAS  Google Scholar 

  • Duckworth-Rysiecki G, Cornish K, Clarke C, Buchwald M (1985) Identification of two complementation groups in Fanconi anemia. Somatic Cell Mol Genet 11: 35–41

    Article  CAS  Google Scholar 

  • Friedrich W, Ebell W, Blütters-Sawatzki R, Junker A, Hübener KH, Schroeder-Kurth T, Kohne E, Kleihauer E (1987) Die Behandlung der Fanconi-Anämie durch Knochenmarktransplantation. Monatsschr Kinderheilkd 135: 253–258

    PubMed  CAS  Google Scholar 

  • Gebhart E, Kysela D, Matthee H, Nikol M (1985) Cytogenetic analyses utilizing various clastogens in two sibs with Fanconi anemia, their relatives, and control individuals. Hum Genet 69: 309–315

    Article  PubMed  CAS  Google Scholar 

  • Gillis S, Mochizuki DY, Coulon PJ, Hefeneider SH, Rambthun CA, Gillis AE, Frank MB, Henney CS, Watson JD (1982) Molecular characterization of Interleukin-2. Immunol Rev 63: 167–209

    Article  PubMed  CAS  Google Scholar 

  • Hand R, German J (1977) Bloom’s syndrome: DNA replication in cultured fibroblasts and lymphocytes. Hum Genet 38: 297–306

    Article  PubMed  CAS  Google Scholar 

  • Hirsch-Kauffmann M, Schweiger M, Wagner EF, Sperling K (1978) Deficiency of DNA ligase activity in Fanconi’s anemia. Hum Genet 45: 25–32

    Article  PubMed  CAS  Google Scholar 

  • Hong Y, Schroeder-Kurth TM (1986) Effect of Alexan (cytoarabinosid) on FA-cells: relevance for bone marrow transplantation, Abstract. 7th International Congress of Human Genetics, Berlin, part II p 501

    Google Scholar 

  • ISCN Harnden DG, Klinger HD in collaboration with Cytogenet Cell Genet (eds) (1985) An International system for human cytogenetic nomenclature. Karger, Basel

    Google Scholar 

  • Kantner G, Schroeder TM, Tariverdian G, Wunder E, Füchsel H-J (1986) Autosomal recessive radius aplasia with 8-methoxypsoralen-UVa sensitivity in lymphocytes (Abstract). 7th international congress of human genetics, Berlin, part II, p 700

    Google Scholar 

  • Klocker H, Auer B, Hirsch-Kauffmann M, Altmann H, Burtscher HJ, Schweiger M (1983) DNA repair dependent NAD+ metabolism is impaired in cells to one patients with Fanconi’s anemia, EMBO 2: 303–307

    CAS  Google Scholar 

  • Marx MP, Smith S, Heyns A du P, van Tonder IZ (1983) Fanconi’s anemia: a cytogenetic study on lymphocyte and bone marrow cultures utilizing 1, 2, 3, 4-diepoxybutane. Cancer Genet Cytogenet 9: 51–60

    Article  PubMed  CAS  Google Scholar 

  • Moustacchi E, Diatloff-Zito C (1985) DNA semi-conservative synthesis in normal and Fanconi anemia fibroblasts following treatment with 8-methoxypsoralen and near ultraviolet light or with X-rays. Hum Genet 70: 236–242

    Article  PubMed  CAS  Google Scholar 

  • Moustacchi E, Papadopoulo D, Diatloff-Zito C, Buchwald M (1987) Two complementation groups of Fanconi’s anemia differ in their phenotypic response to a DNA cross-linking treatment. Hum Genet 75: 45–47

    PubMed  CAS  Google Scholar 

  • Ray JH, German J (1981) The chromosome changes in Blooms’s syndrome, ataxia-telangiectasia, and Fanconi’s anemia. In: Arrighi FE, Rao PN, Stubblefield E (eds) Genes, chromosomes and neoplasia. Raven, New York, p 351–378

    Google Scholar 

  • Sasaki MS (1975) Is Fanconi’s anemia defective in a process essential to the repair of DNA cross links? Nature 257: 501–503

    Article  PubMed  CAS  Google Scholar 

  • Sasaki MS, Tonomura A (1973) A high susceptibility of Fanconi’s anemia to chromosome breakage by DNA cross-linking agents. Cancer Res 33: 1829–1836

    PubMed  CAS  Google Scholar 

  • Schroeder TM (1982) Genetically determined chromosome instability syndromes. Cytogenet Cell Genet 33: 119–132

    Article  PubMed  CAS  Google Scholar 

  • Schroeder TM, German J (1974) Bloom’s Syndrome and Fanconi’s anemia: Demonstration of two distinctive patterns of chromosomal disruption and rearrangement. Humangenetik 25: 299–306

    Article  PubMed  CAS  Google Scholar 

  • Schroeder TM, Kurth R (1971) Spontaneous chromosomal breakage and high incidence of leukemia in inherited disease (analytical review). Blood 37: 96–112

    PubMed  CAS  Google Scholar 

  • Schroeder TM, Stahl-Mauge CH (1979) Mutagenetic effects of isonicotinic acid and hydracide in Fanconi anemia. Hum Genet 52: 309–321

    Article  PubMed  CAS  Google Scholar 

  • Schroeder TM, Anschütz F, Knopp A (1964) Spontane Chromosomenaberrationen bei familiärer Panmyelopathie. Humangenetik 1: 194–196

    Article  PubMed  CAS  Google Scholar 

  • Schroeder TM, Drings P, Beilner P, Buchinger G (1976) Clinical and cytogenetic observations during a six-year period in an adult with Fanconi’s anemia. Blut 34: 119–132

    Article  Google Scholar 

  • Schuler D, Kiss A, Fabian F (1969) Chromosomal peculiarities and “in vitro” examinations in Fanconi’s anemia. Humangenetik 7: 314–322

    Article  PubMed  CAS  Google Scholar 

  • Taylor AMR, Metcalfe JA, Oxford JM, Harnden DG (1976) Is chromatid-type damage in ataxiatelangiectasia after irradiation at G0 a consequence of defective repair? Nature 260: 441–443

    Article  PubMed  CAS  Google Scholar 

  • Taylor AMR, Rosney CM, Campbell JB (1979) Unusual sensitivity of ataxia telangiectasia cells to bleomycin. Cancer Res 39: 1046–1050

    PubMed  CAS  Google Scholar 

  • Wang HG, Fedoroff S (1972) Banding in human chromosomes treated with trypsin. Nature 235: 52–53

    Article  CAS  Google Scholar 

  • Willis AE, Lindahl T (1987) DNA ligase I deficiency in Bloom’s syndrome. Nature 325: 355

    Article  PubMed  CAS  Google Scholar 

  • Willis AE, Weksberg R, Tomlinson S, Lindahl T (1987) Structural alterations of DNA ligase I in Bloom syndrome. Proc Natl Acad Sci USA 84: 8016–8020

    Article  PubMed  CAS  Google Scholar 

  • Wunder E, Fleischer B (1983) Response of lymphocytes from Fanconi’s anemia patients and their heterozygous relatives to 8-methoxypsoralen in a cloning survival test system. Hum Genet 64: 167–172

    Article  PubMed  CAS  Google Scholar 

  • Zhu TH (1986) Internationales Fanconi-Anämie-Register, I. Phase der Untersuchungen - Erfassung von Patienten, klinische und cytogenetische Differentialdiagnose. Dissertation, University of Heidelberg

    Google Scholar 

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Authors
  1. T. M. Schroeder-Kurth
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  2. T. H. Zhu
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  3. Y. Hong
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  4. I. Westphal
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Editor information

Editors and Affiliations

  1. Institut für Humangenetik und Anthropologie, der Universität Heidelberg, Im Neuenheimer Feld 328, D-6900, Heidelberg 1, Federal Republic of Germany

    Traute M. Schroeder-Kurth

  2. Laboratory for Investigative Dermatology, The Rockefeller University, 1230 York Avenue, 10021-6399, New York, NY, USA

    Arleen D. Auerbach Ph. D.

  3. Fachbereich 9 Genetik, Universität Gesamthochschule Essen, Universitätsstraße 5, D-4300, Essen 1, Federal Republic of Germany

    Günter Obe

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© 1989 Springer-Verlag Berlin Heidelberg

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Schroeder-Kurth, T.M., Zhu, T.H., Hong, Y., Westphal, I. (1989). Variation in Cellular Sensitivities Among Fanconi Anemia Patients, Non-Fanconi Anemia Patients, Their Parents and Siblings, and Control Probands. In: Schroeder-Kurth, T.M., Auerbach, A.D., Obe, G. (eds) Fanconi Anemia. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-74179-1_10

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  • DOI: https://doi.org/10.1007/978-3-642-74179-1_10

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-74181-4

  • Online ISBN: 978-3-642-74179-1

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