Fanconi Anemia pp 137-144 | Cite as

Significance of Cellular Sensitivity in a Group of Parents of Fanconi Anemia Patients

  • M. P. Marx
  • S. Smith


Since 1964, when Schroeder et al. reported an increased number of chromosomal and chromatid breaks in the lymphocyte cultures of patients with Fanconi anemia (FA), several methods for diagnosis and basic research, making use of various alkylating agents, cloning survival tests, induced sister chromatid exchanges (SCE), and 3H-thymidine uptake and incorporation have been described (Auerbach et al. 1981; Sasaki and Tonomura 1973; Cohen et al. 1982; Cervenka and Hirsch 1983; Shoyab et al. 1981; Wunder and Fleischer 1984; Berger et al. 1980). These tests facilitate a reliable differentiation between patients with FA and those with overlapping clinical features. However, a reliable method for the identification of FA heterozygotes is still hot available.


Fanconi Anemia Sister Chromatid Exchange Lymphocyte Culture Cellular Sensitivity Chromatid Break 
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  1. Auerbach AD, Wolman SR (1978) Carcinogen induced chromosome breakage in Fanconi’s anemia heterozygous cells. Nature 271: 70–71CrossRefGoogle Scholar
  2. Auerbach AD, Adler BA, Chaganti RSK (1981) Prenatal and postnatal diagnosis and carrier detection of Fanconi anemia by a cytogenetic method. Pediatrics 67: 128–134PubMedGoogle Scholar
  3. Berger R, Bernheim A, Le Coniat M, Vecchione D, Schaison G (1980) Sister chromatid exchanges induced by nitrogen mustard in Fanconi anemia. Application to detection of heterozygotes and interpretation of results. Cancer Genet Cytogenet 2: 259–267CrossRefGoogle Scholar
  4. Cervenka J, Hirsch B (1983) Cytogenetic differentiation of Fanconi anemia, idiopathic aplastic anemia, and Fanconi anemia heterozygotes. Am J Hum Genet 15: 211–223Google Scholar
  5. Cohen MM, Simpson SJ, Honig GR, Maurer HS, Niklas JW, Martin AO (1982) The identification of Fanconi anemia genotypes by clastogenic stress. Am J Hum Genet 34: 794–810PubMedGoogle Scholar
  6. Dallapicola B, Porfirio B, Mokini V, Alumena G, Isacchi G, Grandini E (1985) Effect of oxidants and antioxidants on chromosomal breakage in Fanconi anemia lymphocytes. Hum Genet 69: 62–65CrossRefGoogle Scholar
  7. Dutrillaux B, Aurias A, Dutrillaux AM, Buriot D, Prieur M (1982) The cell cycle of lymphocytes in Fanconi anemia. Hum Genet 62: 327–332PubMedCrossRefGoogle Scholar
  8. Latt SA, Hetten G, Jourgens LA, Buchanan GR, Gerald PS (1975) Induction by alkylating agents of sister chromatid exchanges and chromatid breaks in Fanconi’s anemia. Proc Natl Sci USA 72: 4066–4070CrossRefGoogle Scholar
  9. Marx PM, Smith S, Heyns A du P, van Tonder IZ (1983) A cytogenetic study on lymphocyte and bone marrow cultures utilizing l,2;3,4-diepoxybutane. Cancer Genet Cytogenet 9: 51–60PubMedCrossRefGoogle Scholar
  10. Miura K, Morimoto K, Koizuma A (1983) Proliferation kinetics and mytomycin C-induced chromosome damage in Fanconi’s anemia lymphocytes. Hum Genet 63: 19–23PubMedCrossRefGoogle Scholar
  11. Novotná B, Goetz P, Surkova WI (1979) Effects of alkylating agents on lymphocytes from controls and from patients with Fanconi’s anemia. Hum Genet 49: 41–50PubMedGoogle Scholar
  12. Sasaki MS, Tonomura A (1973) A high susceptibility of Fanconi’s anemia to chromosome breakage by DNA cross-linking agents. Cancer Res 33: 1829–1836PubMedGoogle Scholar
  13. Schroeder TM (1982) Genetically determined chromosome instability syndromes. Cytogenet Cell Genet 33: 119–132PubMedCrossRefGoogle Scholar
  14. Schroeder TM, Anschütz F, Knopp A (1964) Spontane Chromosomenaberrationen bei familiärer Panmyelopathie. Humangenetik 30: 317–323Google Scholar
  15. Shoyab M, Gunnell M, Lubiniecki AS (1981) Reduced uptake and incorporation of 3H-thymidine in Fanconi anemia fibroblasts. Hum Genet 57: 296–299PubMedCrossRefGoogle Scholar
  16. Wunder E, Fleischer B (1984) Response of lymphocytes from Fanconi’s anemia patients and their heterozygous relatives to 8-methoxy-psoralene in a cloning test system. Hum Genet 64: 167–172CrossRefGoogle Scholar

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© Springer-Verlag Berlin Heidelberg 1989

Authors and Affiliations

  • M. P. Marx
  • S. Smith

There are no affiliations available

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