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Factor VIII gene intron 1 inversion: lower than expected prevalence in Italian haemophiliac severe patients

2004; Wiley; Volume: 10; Issue: 2 Linguagem: Inglês

10.1111/j.1365-2516.2003.00855.x

1365-2516

Roberta Salviato, Donata Belvini, Paolo Radossi, Giuseppe Tagariello,

Cancer-related gene regulation

HaemophiliaVolume 10, Issue 2 p. 194-196 Factor VIII gene intron 1 inversion: lower than expected prevalence in Italian haemophiliac severe patients R. Salviato, R. Salviato Haemophilia Centre and blood bank, 31033 Castelfranco Veneto, ItalySearch for more papers by this authorD. Belvini, D. Belvini Haemophilia Centre and blood bank, 31033 Castelfranco Veneto, ItalySearch for more papers by this authorP. Radossi, P. Radossi Haemophilia Centre and blood bank, 31033 Castelfranco Veneto, ItalySearch for more papers by this authorG. Tagariello, G. Tagariello Haemophilia Centre and blood bank, 31033 Castelfranco Veneto, ItalySearch for more papers by this author R. Salviato, R. Salviato Haemophilia Centre and blood bank, 31033 Castelfranco Veneto, ItalySearch for more papers by this authorD. Belvini, D. Belvini Haemophilia Centre and blood bank, 31033 Castelfranco Veneto, ItalySearch for more papers by this authorP. Radossi, P. Radossi Haemophilia Centre and blood bank, 31033 Castelfranco Veneto, ItalySearch for more papers by this authorG. Tagariello, G. Tagariello Haemophilia Centre and blood bank, 31033 Castelfranco Veneto, ItalySearch for more papers by this author First published: 12 February 2004 https://doi.org/10.1111/j.1365-2516.2003.00855.xCitations: 14 Guiseppe Tagariello, MD, Haematology Director, Haemophilia Centre, 31033 Castelfranco Veneto, Italy. Tel.: +390423732341; fax: +390423732337; e-mail: [email protected] Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL References 1 Lakich D, Kazazian HH, Jr, Antonarakis SE, Gitschier J. Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A. Nature Genet 1993; 5: 236– 41. 2 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– 8. 3 Bagnall D, Waseem N, Green PM, Giannelli F. Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe haemophilia A. Blood 2002; 99: 168– 74. 4 Riccardi F, Tagliaferri A, Manotti C, Pattacini C, Neri TM. Intron factor VIII gene inversion in a population of Italian hemophilia A patients. Blood 2002; 100: 3432. 5 Tizzano EF, Cornet M, Baiget M. Inversion of intron 1 of the factor VIII gene for direct molecular diagnosis of hemophilia A. Haematologica 2003; 88: 118– 20. 6 Acquila M, Pasino M, Lanza T, Bottini F, Boeri E, Bicocchi MP. Frequency of factor VIII 1 inversion in a cohort of severe hemophilia A Italian patients. Haematologica 2003; 88: ELT17. 7 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: 1323– 4. 8 Liu Q, Nozari G, Sommer SS. Single-tube polymerase chain reaction for rapid diagnosis of the inversion hotspot of mutation in haemophilia A. Blood 1998; 92: 1458– 9. 9 Antonarakis SE, Rossiter JP, Young M et al. Factor VIII gene inversions in severe hemophilia A: results of an International Consortium Study. Blood 1995; 86: 2206– 12. 10 Ganguly A, Rock MJ, Prockop DJ. Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes. Proc Natl Acad Sci USA 1993; 90: 10325– 9. 11 Schwaab R, Brakman H, Meyer C et al. Mutation type determines risk of inhibitor formation. Thromb Haemost 1995; 74: 1402– 6. 12 Ahmed R, Kannan M, Prakash Choudhry V, Saxena R. Mutation reports: intron 1 and 22 inversions in Indian haemophilics. Ann Hematol 2003; 82: 546– 7. Citing Literature Volume10, Issue2March 2004Pages 194-196 ReferencesRelatedInformation