Open Access

Diagnosis of Fanconi's Anemia by Diepoxybutane Analysis in Children from Serbia


Cite

Alter BP. Inherited bone marrow failure syndromes. In: Handin RI, Stossel TP, Lux SE, Eds. Blood: Principles and Practice of Hematology. Philadelphia: JB Lippincott. 1995: 227-291.Search in Google Scholar

Bagby GC, Lipton JM, Sloand EM, Schiffer CA. Marrow failure. Hematology Am Soc Hematol Educ Program. 2004: 318-336.10.1182/asheducation-2004.1.31815561690Search in Google Scholar

Moldovan GL, D'Andrea AD. How the Fanconi anemia pathway guards the genome. Annu Rev Genet. 2009; 43: 223-249.10.1146/annurev-genet-102108-134222283071119686080Search in Google Scholar

Wang W. Emergence of a DNA-damage response network consisting of Fanconi anaemia and BRCA proteins. Nat Rev Genet. 2007; 8(10): 735-748.10.1038/nrg215917768402Search in Google Scholar

Vaz F, Hanenberg H, Schuster B, Barker K, Wiek C, Erven V, Neveling K, Endt D, Kesterton I, Autore F, Fraternali F, Freund M, Hartmann L, Grimwade D, Roberts RG, Schaal H, Mohammed S, Rahman N, Schindler D, Mathew CG. Mutation of the RAD51C gene in a Fanconi anemia-like disorder. Nat Genet. 2010; 42(5): 406-409.10.1038/ng.57020400963Search in Google Scholar

Stoepker C, Hain K, Schuster B, Hilhorst-Hofstee Y, Rooimans MA, Steltenpool J, Oostra AB, Eirich K, Korthof ET, Nieuwint AW, Jaspers NG, Bettecken T, Joenje H, Schindler D, Rouse J, de Winter JP. SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype. Nat Genet. 2011; 43(2): 138-141.10.1038/ng.75121240277Search in Google Scholar

Dallapiccola B, Porfirio B, Mokini V, Alimena G, Isacchi G., Gandini E. Effect of oxidants and antioxidants on chromosomal breakage in Fanconi's anemia lymphocytes. Hum Genet. 1985; 69(1): 62-65.10.1007/BF002955303967890Search in Google Scholar

Joenje H, Eriksson AW, Frants RR, Arwert F, Houwen B. Erythrocyte superoxide dismutase deficiency in Fanconi's anemia. Nature. 1978; 290(8057): 142-143.Search in Google Scholar

Schindler D, Hoehn H. Fanconi anemia mutation causes cellular susceptibility to ambient oxygen. Am J Hum Genet. 1988; 43(4): 429-435.Search in Google Scholar

Petrovic S, Leskovac A, Kotur-Stevuljevic J, Joksic I, Guc-Scekic M, Vujic D, Joksic G. Gender-related differences in the oxidant state of cells in Fanconi anemia heterozygotes. Biol Chem. 2011; 392(7): 625-632.10.1515/bc.2011.064Search in Google Scholar

Auerbach AD. A test for Fanconi's anemia. Blood. 1988; 72(1): 366-367.10.1182/blood.V72.1.366.366Search in Google Scholar

Auerbach AD. Diagnosis of Fanconi anemia by diepoxybutane analysis. In: Dracopoli NC, Ed. Short Protocols in Human Genetics: a Compendium of Methods From Current Protocols in Human Genetics. Hoboken: J. Wiley. 2004: 31-37.10.1002/0471142905.hg0807s3718428345Search in Google Scholar

Sasaki MS, Tonomura A. A high susceptibility of Fanconi's anemia to chromosome breakage by DNA cross linking agents. Cancer Res. 1973; 33(8): 1829-1836.Search in Google Scholar

Wegner R-D, Stumm M. Diagnosis of chromosomal instability syndromes. In: Wegner R-D, Ed. Diagnostic Cytogenetics. Berlin: Springer-Verlag. 1999: 251-268.10.1007/978-3-642-59918-7_14Search in Google Scholar

An International System for Cytogenetic Nomenclature (ISCN 2009). In: Schaffer LG, Tommerup N, Eds. Basel: S. Karger, 2009.Search in Google Scholar

Auerbach AD, Rogatko A, Schroeder-Kurth TM, International Fanconi Anemia Registry. Relation of clinical symptoms to diepoxybutane sensitivity. Blood. 1989; 73(2): 391-396.10.1182/blood.V73.2.391.391Search in Google Scholar

Alter BP. Fanconi's anemia and malignancies. Am J Hematol. 1996; 53(2): 99-110.10.1002/(SICI)1096-8652(199610)53:2<99::AID-AJH7>3.0.CO;2-ZSearch in Google Scholar

Dokal I, Vulliamy T. Inherited bone marrow failure syndromes. Haematologica. 2010; 95(8): 1236-1240.10.3324/haematol.2010.025619Search in Google Scholar

Esmer C, Sanchez S, Ramos S, Molina B, Frias S, Carnavale A. DEB test for Fanconi anemia detection in patients with atypical phenotypes. Am J Med Genet. 2004; 124(1): 35-39.10.1002/ajmg.a.20327Search in Google Scholar

Liu JM, Buchwald M, Walsh CE, Young NS. Fanconi anemia and novel strategies for therapy. Blood. 1994; 12(84): 3995-4007.10.1182/blood.V84.12.3995.bloodjournal84123995Search in Google Scholar

Najean Y, Pecking A, Le Danvic M. Androgen therapy in aplastic anemia in childhood. A prospective study of 352 cases. Scand J Haematol. 1976; 22(4): 343-356.10.1111/j.1600-0609.1979.tb00430.xSearch in Google Scholar

Kook H, Cho D, Cho SH, Hong WP, Kim CJ, Park JY, Yoon WS, Ryang DW, Hwang TJ. Fanconi anemia screening by diepoxybutane and mitomycin C tests in Korean children with bone marrow failure syndromes. J Korean Med Sci. 1998; 13(6): 623-628.10.3346/jkms.1998.13.6.623Search in Google Scholar

Cho SH, Kook H, Kim GM, Yoon WS, Cho TH, Hwang TJ. A clinical study of Fanconi's anemia. Korean J Pediatr Hematol Oncol. 1997; 4(1): 70-77.Search in Google Scholar

Ilgin H, Akarsu AN, Bokesoy FI. Cytogenetic and phenotypic findings in Turkish patients with Fanconi anemia. Tr J Med Sci. 1999; 29(2): 151-154.Search in Google Scholar

Soulier J, Leblanc T, Larghero J, Dastot H, Shimamura A, Guardiola P, Esperou H, Ferry C, Jubert C, Feugeas JP, Henri A, Toubert A, Socie G, Baruchel A, Sigaux F, D'Andrea AD, Gluckman E. Detection of somatic mosaicism and classification of Fanconi anemia patients by analysis of the FA/BRCA pathway. Blood. 2005; 105(3): 1329-1336.10.1182/blood-2004-05-1852Search in Google Scholar

Kwee ML, Poll EH, van de Kamp JJ, de Koning H, Eriksson AW, Joenje H. Unusual response to bifunctional alkylating agents in a case of Fanconi anaemia. Hum Genet. 1983; 64(4): 384-387.10.1007/BF00292372Search in Google Scholar

Lo Ten Foe JR, Kwee ML, Rooimans MA, Oostra AB, Veerman AJ, van Weel M, Pauli RM, Shahidi NT, Dokal I, Roberts I, Altay C, Gluckman E, Gibson RA, Mathew CG, Arwert F, Joenje H. Somatic mosaicism in Fanconi anemia: molecular basis and clinical significance. Eur J Hum Genet. 1997; 5(3): 137-148.10.1159/000484749Search in Google Scholar

Gross M, Hanenberg H, Lobitz S, Friedl R, Herterich S, Dietrich R, Gruhn B, Schindler D, Hoehn H. Reverse mosaicism in Fanconi anemia: natural gene therapy via molecular self-correction. Cytogenet Genome Res. 2002; 98(2-3): 126-135.10.1159/00006980512697994Search in Google Scholar

Youssoufian H. Natural gene therapy and the Darwinian legacy. Nat Genet. 1996; 13(3): 255-256.10.1038/ng0796-2558673116Search in Google Scholar

Castella M, Pujol R, Callén E, Ramírez MJ, Casado JA, Talavera M, Ferro T, Muñoz A, Sevilla J, Madero L, Cela E, Beléndez C, de Heredia CD, Olivé T, de Toledo JS, Badell I, Estella J, Dasí Á, Rodríguez-Villa A, Gómez P, Tapia M, Molinés A, Figuera Á, Bueren JA, Surrallés J. Chromosome fragility in patients with Fanconi anaemia: diagnostic implications and clinical impact. J Med Genet. 2011; 48(4): 242-250.10.1136/jmg.2010.08421021217111Search in Google Scholar

ISSN:
1311-0160
Language:
English
Publication timeframe:
2 times per year
Journal Subjects:
Medicine, Basic Medical Science, other