
MOLECULAR CHARACTERIZATION OF
HEMOPHILIA A IN THE REPUBLIC OF MACEDONIA
Sukarova-Stefanovska E1, Zisovski N2,
Muratovska O2, Kostova S3, Efremov GD1,*
*Corresponding Author: Professor Dr. Georgi D. Efremov, Research Centre for Genetic Engineering and Biotechnology, Macedonian Academy of Sciences and Arts, Bul. Krste Misirkov 2, 1000, Skopje, Republic of Macedonia; Tel: +389 2 3120 253; Fax: +389 2 3115 434; e-mail: gde@manu.edu.mk page: 27
|
REFERENCES
1. Rodgers GM, Greenberg CS. Inherited coagulation disorders. In: Wintrobe’s Clinical Hematology, 10th Edition, Lee GR, Foerster J, eds. Williams & Wilkins, A Waverly Company, Baltimore, MD, USA, 1999.
2. Gitschier J, Wood WI, Goralka TM, Wion KL, Chen EY, Eaton DH, Vehar GA, Capon DJ, Lawn RM. Characterization of the human factor VIII gene. Nature 1984; 312: 326-330.
3. Wood WI, Capon DJ, Simonsen CC, Eaton DL, Gitschier J, Delwart E, Keyt B, Seeburg PH, Smith DL, Hollingshead P, Wion KL, Tuddenham EGD, Vehar GA, Lawn RM. Expression of active human factor VIII from recombinant DNA clones. Nature 1984; 312: 330-337.
4. Tuddenham EGD, Schwaab R, Seehafer J, Millar DS, Gitschier J, Higuchi M, Bidichandani S, Connor JM, Hoyer LW, Yoshioka A, Peake JR, Olek K, Kazazian HH Jr, Lavergne J-M, Giannelli F, Antonarakis SE, Cooper DN. Haemophilia A: Database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene. Nucleic Acids Res 1994; 22: 4851-4868.
5. Lakich D, Kazazian HH Jr, Antonarakis SE, Gitschier J. Inversions disrupting the factor VIII gene are a common cause of severe hemophilia A. Nature Genet 1993; 5: 236-241.
6. Antonarakis SE, Rossiter JP, Young M, Horst J, de Moerloose P. Factor VIII gene inversions in severe hemophilia A: results of the International Consortium study. Blood 1995; 86(6): 2206-2212.
7. Miller R. Councelling about diagnosis and inheritance of genetic bleeding disorders: haemophilia A and B. Haemophilia 1999; 5: 77-83.
8. Antonarakis SE, Kazazian HH, Tuddenham EGD. Molecular ethiology of factor VIII deficiency in hemophilia A. Hum Mutat 1995; 5: 1-22.
9. Poncz M, Solowiejczyk D, Harpel B, Mory Y, Schwartz E, Surrey S. Construction of human gene libraries from small amount of peripheral blood: Analysis of b-like globin genes. Hemoglobin 1982; 6(2): 27-36.
10. Efremov GD, Dimovski AJ, Plaseska-Karanfilska D, Simjanovska L, Sukarova E, Efremov DG, Koceva S, Popovski Z. Laboratory Manual, 2nd Edition, ICGEB Affiliated Centre Course “Nucleic Acid Based Methods in Human and Veterinary Medicine”, Skopje, Republic of Macedonia, 1998.
11. Gitschier J, Wood WI, Tuddenham EGD, Shuman MA, Goralka TM, Chen EY, Lawn RM. Detection and sequence mutations in the factor VIII gene of haemophiliacs. Nature 1985; 315: 427-430.
12. David D, Moreira I, Lalloz MRA, Rosa HAV, Schwaab R, Morais S, Morais S, Diniz MJ, DeBeus G, Camops M, Lavinha J, Johnson D, Tuddenham EGD. Analysis of the essential sequences of the human factor VIII gene in twelve haemophilia A patients by single strand conformation polymorphism. Blood Coagul Fibrinol 1992; 5: 257-264.
13. Diamond C, Kogan S, Levinson B, Gitschier J. Amino acid substitutions in a conserved domains of factor VIII and related proteins: Study of patients with mild and moderately severe hemophilia A. Hum Mutat 1992; 1: 248-257.
14. Saiki RK, Gelfand DH, Stoffel S, Scharf SJ, Higuchi R, Horn GT, Erlich HA. Primer directed enzymatic amplification of DNA with a thermostabile DNA polymerase. Science 1988; 239: 487-490.
15. Sanger F, Nicklen S, Coulson AR. DNA sequencing with chain terminating inhibitors. Proc Natl Acad Sci USA 1977; 74: 5463-5467.
16. Polakova E, Kadasi L, Filova A. Factor VIII gene inversions in haemophilia A patients of Slovakia. Hum Hered 1998; 48(1): 34-39.
17. Rossiter JP, Young M, Kimberland ML, Hutter P, Ketterling RP, Gitschier J, Horst J, Morris MA, Schaid DJ, Moerloose P, Sommer SS, Kazazian HH Jr, Antonarakis SE. Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cells. Hum Molec Genet 1994; 3(7): 1935-1939.
18. Youssoufian H, Antonarakis SE, Bell W, Griffin AM, Kazazian HH Jr. Nonsense and missense mutation in hemophilia A. estimate of the relative mutation rate at CpG dinucleotides. Am J Hum Genet 1988; 42: 718-725.
19. Pattinson JK, Millar DS, McVey JH, Grundy CB, Wieland K, Mibashan RS, Martinowitz U, Tan-Un K, Vidaud M, Goossens M, Sampietro M, Mannucci PM, Krawczak M, Reiss J, Zoll B, Whitmore D, Bowcock S, Wensley R, Ajani A, Mitschiell M, Rizza C, Maia R, Winter P, Mayne EE, Schwartz M, Green PJ, Kakkar VV, Tuddenham EGD, Cooper DN. The molecular genetic analysis of hemophilia A: a directed search strategy for the detection of point mutations in the human factor VIII gene. Blood 1990; 76(11): 2242-2248.
20. Higuchi M, Kazazian HH, Kasch L, Warren TC, McGinniss MJ, Phillips JA, Kasper C. Molecular characterization of severe hemophilia A suggests that about half the mutations are not within the coding regions and splice junctions of the factor VIII gene. Proc Natl Acad Sci USA 1991; 88: 7405-7409.
21. Higuchi M, Antonarakis SE, Kasch L, Oldenburg J, Petersen EE, Olek K, Inaba H. Molecular characterization of mild to moderate hemophilia A: detection of the mutation in 25 of 29 patients by denaturing gradient gel electrophoresis. Proc Natl Acad Sci USA 1991; 88: 8307-8311.
22. Arai M, Higuchi M, Antonarakis SE, Kazazian HH Jr, Phillips JA III, Janco RL, Hoyer LW. Characterization of a thrombin cleavage site mutation (Arg 1689 to Cys) in the factor VIII gene of two unrelated patients with cross-reacting material-positive hemophilia A. Blood 1990; 75(2): 384-389.
23. Cooper DN, Krawczak M. The mutational spectrum of single-base substitutions causing human genetic disease: pattern and predictors. Hum Genet 1990; 85: 55-58.
24. Sukarova-Stefanovska E, Zisovski N, Muratovska O, Kostova S, Efremov GD. Three novel point mutations causing haemophilia A. Haemophilia 2002; 8: 715-718.
25. Kemball-Cook G, Tuddenham EGD, Wacey AI. The factor VIII structure and Mutation resource site: HAMSTeRS vrs 4, Nucleic Acids Res 1998; 26: 216-219.
26. Pemberton S, Lindley P, Zaitsen V, Card G, Tuddenham EGD, Kambell-Cook G. A molecular model for the triplicated A domains of human factor VIII based on the crystal structure of human ceruloplasmin. Blood 1997; 89: 2413-2421.
27. Kaufman RJ. Post-translational modifications required for coagulation factor secretion and function. Thromb Haemost 1998; 79: 1068-1079.
28. Stoilova-McPhie S, Villoutreix B.O, Mertens K, Kemball-Cook G, Holzenburg A. 3-Dimensional structure of membrane-bound coagulation factor VIII: modeling of the factor VIII heterodmer within a 3-dimensional density map derived by electron crystellography. Blood 2002; 99(4): 1215-1223.
29. Gaucher C, Mazurier C. Characterization of factor VIII gene inversions using a non-radioactive detection method: a survey of 102 unrelated haemophilia A families from southern France. Nouv Rev Fr Haematol 1995; 37(2): 131-136.
30. Mori PG, Caprino D, Bicocchi MP, Valetto A, Bottini F, Aquila M. Inversion mutation as a major cause of severe hemophilia A in Italian patients. Haematologica 1997; 82(1): 75-76.
31. El-Maarri O, Kavakli K, Caglayan H. Intron 22 inversions in the Turkish haemophilia A patients: prevalence and haplotype analysis. Haemophilia 1999; 5: 169-173.
32. Kapsimalis Z, Adamtziki E, Platokouki H, Aronis S. Frequency of factor VIII inversion in severe haemophilia A children and female members of their families. Haema-J Hellenic Soc Haematol 1999; 2(3): 157-160.
33. Vnencak-Jones CL, Phillips JA III, Janco RL, Cohen PM, Kazazian HH Jr, Rossiter JP. Analysis of factor VIII gene inversion mutations in 166 unrelated hemophilia A families:frequency and utility in genetic counseling. Haemophilia 1996; 2: 18-23.
34. de Brasi C, Candela M, Cermelj M, Slavutsky I, Larripa I, Bianco R. Intron 22 factor VIII gene inversions in Argentine families with severe haemophilia A . Haemophilia 2000; 6(1): 21-22.
35. Soares RP, Chamone DA, Bydlowski SP. Factor VIII gene inversions and polymorphisms in Brasilian patients with haemophilia A: carrier detection and prenatal diagnosis. Haemophilia 2001; 7(3): 299-305.
36. Chen Y-D, Zhang Y-Z, Wu J-S. Molecular diagnosis of hemophilia A in Chinese patients by an analysis of inversions in the factor VIII gene. Hematopatol Mol Hematol 1996; 10: 63-67.
37. van de Water NS, Williams R, Nelson J, Browett PJ. Factor VIII gene inversions in severe hemophilia A patients. Pathology 1995; 27(1): 83-85.
|
|
|
|



 |
Number 27 VOL. 27 (2), 2024 |
Number 27 VOL. 27 (1), 2024 |
Number 26 Number 26 VOL. 26(2), 2023 All in one |
Number 26 VOL. 26(2), 2023 |
Number 26 VOL. 26, 2023 Supplement |
Number 26 VOL. 26(1), 2023 |
Number 25 VOL. 25(2), 2022 |
Number 25 VOL. 25 (1), 2022 |
Number 24 VOL. 24(2), 2021 |
Number 24 VOL. 24(1), 2021 |
Number 23 VOL. 23(2), 2020 |
Number 22 VOL. 22(2), 2019 |
Number 22 VOL. 22(1), 2019 |
Number 22 VOL. 22, 2019 Supplement |
Number 21 VOL. 21(2), 2018 |
Number 21 VOL. 21 (1), 2018 |
Number 21 VOL. 21, 2018 Supplement |
Number 20 VOL. 20 (2), 2017 |
Number 20 VOL. 20 (1), 2017 |
Number 19 VOL. 19 (2), 2016 |
Number 19 VOL. 19 (1), 2016 |
Number 18 VOL. 18 (2), 2015 |
Number 18 VOL. 18 (1), 2015 |
Number 17 VOL. 17 (2), 2014 |
Number 17 VOL. 17 (1), 2014 |
Number 16 VOL. 16 (2), 2013 |
Number 16 VOL. 16 (1), 2013 |
Number 15 VOL. 15 (2), 2012 |
Number 15 VOL. 15, 2012 Supplement |
Number 15 Vol. 15 (1), 2012 |
Number 14 14 - Vol. 14 (2), 2011 |
Number 14 The 9th Balkan Congress of Medical Genetics |
Number 14 14 - Vol. 14 (1), 2011 |
Number 13 Vol. 13 (2), 2010 |
Number 13 Vol.13 (1), 2010 |
Number 12 Vol.12 (2), 2009 |
Number 12 Vol.12 (1), 2009 |
Number 11 Vol.11 (2),2008 |
Number 11 Vol.11 (1),2008 |
Number 10 Vol.10 (2), 2007 |
Number 10 10 (1),2007 |
Number 9 1&2, 2006 |
Number 9 3&4, 2006 |
Number 8 1&2, 2005 |
Number 8 3&4, 2004 |
Number 7 1&2, 2004 |
Number 6 3&4, 2003 |
Number 6 1&2, 2003 |
Number 5 3&4, 2002 |
Number 5 1&2, 2002 |
Number 4 Vol.3 (4), 2000 |
Number 4 Vol.2 (4), 1999 |
Number 4 Vol.1 (4), 1998 |
Number 4 3&4, 2001 |
Number 4 1&2, 2001 |
Number 3 Vol.3 (3), 2000 |
Number 3 Vol.2 (3), 1999 |
Number 3 Vol.1 (3), 1998 |
Number 2 Vol.3(2), 2000 |
Number 2 Vol.1 (2), 1998 |
Number 2 Vol.2 (2), 1999 |
Number 1 Vol.3 (1), 2000 |
Number 1 Vol.2 (1), 1999 |
Number 1 Vol.1 (1), 1998 |
|
|