A possible mechanism for Inv22-related F8 large deletions in severe hemophilia A patients with high responding factor VIII inhibitors
Article first published online: 1 OCT 2012
© 2012 International Society on Thrombosis and Haemostasis
Journal of Thrombosis and Haemostasis
Volume 10, Issue 10, pages 2099–2107, October 2012
How to Cite
FUJITA, J., MIYAWAKI, Y., SUZUKI, A., MAKI, A., OKUYAMA, E., MURATA, M., TAKAGI, A., MURATE, T., SUZUKI, N., MATSUSHITA, T., SAITO, H. and KOJIMA, T. (2012), A possible mechanism for Inv22-related F8 large deletions in severe hemophilia A patients with high responding factor VIII inhibitors. Journal of Thrombosis and Haemostasis, 10: 2099–2107. doi: 10.1111/j.1538-7836.2012.04897.x
- Issue published online: 1 OCT 2012
- Article first published online: 1 OCT 2012
- Accepted manuscript online: 20 AUG 2012 10:29AM EST
- Received 22 March 2012, accepted 31 July 2012
Figure S1. Rearrangement specific PCR of the patients and the family members of P2. In the patients, PCR products used multiplex primers were showed two bands, in contrast one band in the wild-type. (A) PCR for the breakpoint junction of P1. (B) Breakpoint junction of P2, his mother and his grandmother. (C) Breakpoint junction of P3. Primer sequences are listed in Table S4. M, 100 bp DNA ladder marker; WT, wild-type control; P1–P3, Patient 1–3; Mo, P2’s mother; GMo, P2’s grandmother. (D–F) Schematic summaries of rearrangement specific PCR locations of Xq28. Upper; patient model, lower; wild-type (int22h-123 variant for P1 and P2, int22h-132 variant for P3). Arrows indicate the sites of PCR primer pairs. Two PCR bands with green-blue and red-blue primer pairs were amplified in the patients, but only one band with green-blue primer pair was amplified in the wild-type.
Table S1. (A) IS-PCR primers. (B) Expected product size in each reaction.
Table S2. PCR mapping primers.
Table S3. Inverse PCR and sequencing primers.
Table S4. Breakpoint specific primers.
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