FACTOR VIII-INTRON 1 INVERSION OF HEMOPHILIA A PATIENTS IN WEST ANATOLIA
Pehlivan M1, Pehlivan S2,3,*, Buyukkececi F4, Çagirgan S4, Y2lmaz M1, Bedii Omay S4, Tombulo—lu M4, Kavakl2 K5
*Corresponding Author: Associate Professor Dr. Sacide Pehlivan, Department of Medical Biology and Genetic, Faculty of Medicine, Gaziantep University, Gaziantep, Turkey; Tel.: +90-342-3171000/77653; Fax: +90-342-360398; E-mail: spehlivan@gantep.edu.tr; psacide@hotmail.com
page: 49

REFERENCES

1. Vehar GA, Keyt B, Eaton D, Rodriguez H, O’Brien DP, Rotblat F, Oppermann H, Keck R, Wood WI, Harkins RN, et al. Structure of human factor VIII. Nature 1984; 312(5992): 337-342.

2. Balton-Maggs PH, Pasi KJ. Haemophilias A and B. Lancet 2003; 361(9371): 1801-1809.

3. Bagnall RD, Waseem N, Green PM, Giannelli F. Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe Hemophilia A. Blood 2002; 99(1):168-174.

4. Eyster ME, Lewis JH, Shapiro SS, Gill F, Kajani M, Prager D, Djerassi I, Rice S, Lusch C, Keller A. The Pennsylvania hemophilia program 1973-78. Am J Hematol 1980; 9(3): 277-286.

5. Miller SA, Dykes DD, Polesky HF. A simple salting-out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988; 16(3):1215.

6. Salviato R, Belvini D, Radossi P, Tagariello G. Factor VIII gene intron 1 inversion: lower than expected prevalence in Italian haemophiliac severe patients. Haemophilia 2004; 10(2): 194-196.

7. Andrikovics H, Klein I, Bors A, Nemes L, Marosi A, Varadi A, Tordai A. Analysis of large structural changes of factor VIII gene, involving intron 1 and 22, in severe haemophilia A. Haemotologica 2003; 88(7): 778-784.

8. Habart D, Kalabova D, Hrachovinova I, Vorlova Z. Significant prevalence of the intron 1 factor VIII gene inversion among patients with severe Hemophilia A in the Czech Republic. J Thromb Haemost 2003; 1(4): 1323-1324.

9. Cumming AM. UK Haemophilia Centre Doctors’ Organization Haemophilia Genetics Laboratory Network. The factor VIII gene intron 1 inversion mutation: prevalence in severe Haemophilia A patients in the UK. J Thromb Haemost 2004; 2(1): 205-206.

10. Rastegar Lari G, Enayat MS, Arzang Z, Laverne JM, Ala, F. Identification of intron 1 and 22 inversion mutations in the factor VIII gene of 124 Iranian families with severe Haemophilia A. Haemophilia 2004; 10(4):410-411.

11. Ghosh K, Shetty S and Mohanty D. Inversion of intron 1 is a rare cause of severe Hemophilia A in Indian population. J Thromb Haemost 2004; 2(8): 1481-1482.




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