
DIAGNOSIS OF FANCONI’S ANEMIA BY DIEPOXYBUTANE
ANALYSIS IN CHILDREN FROM SERBIA Cirkovic S1,*, Guc-Scekic M1,2, Vujic D3,5, Ilic N1, Micic D4, Skoric D6, Jovanovic A4 *Corresponding Author: Sanja Cirkovic, Department of Medical Genetics, Mother and Child Health Care
Institute of Serbia “Dr Vukan Cupic”, Radoja Dakica 6-8 st., 11070 Belgrade, Serbia; Tel.: +381-11-3108-273;
Mobile tel.: +381-62-860-1180; E-mail: genetikaimd@beotel.rs, sanja.s.cirkovic@gmail.com page: 65
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REFERENCES
1. 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.
2. Bagby GC, Lipton JM, Sloand EM, Schiffer CA.
Marrow failure. Hematology Am Soc Hematol Educ
Program. 2004: 318-336.
3. Moldovan GL, D’Andrea AD. How the Fanconi anemia
pathway guards the genome. Annu Rev Genet. 2009;
43: 223-249.
4. Wang W. Emergence of a DNA-damage response
network consisting of Fanconi anaemia and BRCA
proteins. Nat Rev Genet. 2007; 8(10): 735-748.
5. 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.
6. 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.
7. 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.
8. Joenje H, Eriksson AW, Frants RR, Arwert F, Houwen
B. Erythrocyte superoxide dismutase deficiency in
Fanconi’s anemia. Nature. 1978; 290(8057): 142-143.
9. Schindler D, Hoehn H. Fanconi anemia mutation causes
cellular susceptibility to ambient oxygen. Am J Hum
Genet. 1988; 43(4): 429-435.
10. 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.
11. Auerbach AD. A test for Fanconi’s anemia. Blood.
1988; 72(1): 366-367.
12. 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.
13. 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.
14. Wegner R-D, Stumm M. Diagnosis of chromosomal
instability syndromes. In: Wegner R-D, Ed. Diagnostic
Cytogenetics. Berlin: Springer-Verlag. 1999: 251-268.
15. An International System for Cytogenetic Nomenclature
(ISCN 2009). In: Schaffer LG, Tommerup N, Eds.
Basel: S. Karger, 2009.
16. Auerbach AD, Rogatko A, Schroeder-Kurth TM,
International Fanconi Anemia Registry. Relation of
clinical symptoms to diepoxybutane sensitivity. Blood.
1989; 73(2): 391-396.
17. Alter BP. Fanconi’s anemia and malignancies. Am J
Hematol. 1996; 53(2): 99-110.
18. Dokal I, Vulliamy T. Inherited bone marrow failure
syndromes. Haematologica. 2010; 95(8): 1236-1240.
19. 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.
20. Liu JM, Buchwald M, Walsh CE, Young NS. Fanconi
anemia and novel strategies for therapy. Blood. 1994;
12(84): 3995-4007.
21. 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.
22. 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.
23. 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.
24. 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.
25. 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.
26. 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.
27. 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.
28. 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.
29. Youssoufian H. Natural gene therapy and the Darwinian
legacy. Nat Genet. 1996; 13(3): 255-256.
30. 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.
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