Inversions of the Factor VIII Gene in Japanese Patients with Severe Hemophilia A

International Journal of Hematology

Volumn 79, Issue 3, 2004, Pages 303-306

  Fukuda, Kazuyoshi ^a   Naka, Hiroyuki ^a   Morichika, Shogo ^a   Shibata, Masaru ^a   Tanaka, Ichiro ^a   Shima, Midori ^a   Yoshioka, Akira ^a  

^a NARA MEDICAL UNIVERSITY   (Japan)

Author keywords

Carrier detection; Hemophilia A; Inhibitor; Inversion

Indexed keywords

BLOOD CLOTTING FACTOR 8;

ARTICLE; CHROMOSOME INVERSION; DISEASE SEVERITY; GENETIC COUNSELING; HEMOPHILIA A; HETEROZYGOTE DETECTION; HUMAN; JAPAN; MAJOR CLINICAL STUDY; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SOUTHERN BLOTTING;

EID: 2442532009     PISSN: 09255710     EISSN: None     Source Type: Journal    
DOI: 10.1532/IJH97.03138     Document Type: Article

References (26)

1. Wood WI, Gitshier J, Simonsen CC, et al. Characterization of the human factor VIII gene. Nature. 1984;312:330-337.
2. Toole JJ, Knopf JL, Wozney JM, et al. Molecular cloning of a cDNA encoding human antihaemophilic factor. Nature. 1984;312:342-347.
3. Kemball-Cook G, Tuddenham EGD. The factor VIII mutation database on the World Wide Web: the haemophilia A mutation, search, test and resource site: HAMSTeRS update (version 3.0). Nucleic Acids Res. 1997;25:128-132.
4. Naylor JA, Green PM, Montandon AJ, Rizza CR, Giannelli F. Detection of three novel mutations in two haemophilia A patients by rapid screening of whole essential region of factor VIII gene. Lancet. 1991;337:635-639.
5. Higuchi M, Kazazian HH Jr, Kasch L, et al. 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 U S A. 1991;88:7405-7409.
6. Naylor JA, Green PM, Rizza CR, Giannelli F. Analysis of factor VIII mRNA reveals defects in everyone of 28 haemophilia A patients. Hum Mol Genet. 1993;2:11-17.
7. Lakich D, Kazazian HH Jr, Antonarakis SE, Gitshier J. Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A. Nat Genet. 1993;5:236-241.
8. Naylor J, Brinke A, Hassock S, Green PM, Giannelli F. Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions. Hum Mol Genet. 1993;2:1773-1778.
9. Naylor JA, Buck D, Green P, Williamson H, Bentley D, Giannelli F. Investigation of the factor VIII intron 22 repeated region (int22h) and the associated inversion junctions. Hum Mol Genet. 1995;4:1217-1224.
10. Antonarakis SE, Rossiter JP, Young M, et al. Factor VIII gene inversion in severe hemophilia A: results of an international consortium study. Blood. 1995;86:2206-2212.
11. Schaab R, Brackmann HH, Meyer C, et al. Hemophilia A: mutation type determines risk of inhibitor formation. Thromb Haemost. 1995;74:1402-1406.
12. Shima M, Matsumoto T, Fukuda K, et al. The utility of activated partial thromboplastin time (aPTT) clot waveform analysis in the investigation of hemophilia A patients with very low levels of factor VIII activity (FVIII:C). Thromb Haemost. 2002;87:436-441.
13. 1689 detected by a novel ELISA. Br J Haematol. 1994;86:106-111.
14. Sawamoto Y, Shima M, Tanaka I, et al. Anti-factor VIII inhibitor alloantibodies recognizing A2 domain in the human factor VIII heavy chain poorly bind to porcine factor VIII. Int J Hematol. 1997; 65:151-158.
15. Yoshioka A, Fujimura Y, Yoshioka K, et al. A note on the carrier detection of hemophilia A. Jpn J Hum Genet. 1977;22:261-270.
16. Naylor JA, Green PM, Rizza CR, Giannelli F. Factor VIII gene explains all cases of haemophilia A. Lancet. 1992;340:1066-1067.
17. Rossiter JP, Young M, Kimberland ML, et al. Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cell. Hum Mol Genet. 1994;3:1035-1039.
18. Tizzano EF, Domenech M, Baiget M. Inversion of intron 22 in isolated cases of severe hemophilia A. Thromb Haemost. 1995;73:6-9.
19. Weinmann AF, Schoof JM, Thompson AR. Clinical correlates among 49 families with hemophilia A and factor VIII gene inversions. Am J Hematol. 1996;51:192-199.
20. Inaba H, Shibata H, Yoshida S, et al. Inversion in Japanese patients with hemophilia A [letter]. Thromb Haemost. 1995;74:810.
21. Goodeve AC, Preston EF, Peake IR. Factor VIII gene rearrangements in patients with severe haemophilia A. Lancet. 1994;343:329-330.
22. Goodeve EC, William I, Brey GL, Peake IR. Relationship between factor VIII mutation type and inhibitor development in a cohort of previously untreated patients treated with recombinant factor VIII (Recombinate): Recombinate PUP Study Group. Thromb Haemost. 2000;83:844-848.
23. Valleix S, Nafa K, Stietjes N, et al. Prevalence, male germ-line origin and new patterns of inversions in haemophilia A. Ann Genet. 1997;40:35-40.
24. Ljung RC, Sjorin E. Origin of mutation in sporadic cases of haemophilia A. Br J Haematol. 1999;106:870-874.
25. Crow JF. The origins, patterns and implications of human spontaneous mutation. Nat Rev Genet. 2000;1:40-47.
26. Pecorra M, Casarino L, Mori PG, et al. Hemophilia A: carrier detection and prenatal diagnosis by DNA analysis. Blood. 1987;70:531-535.