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Identification of a third rearrangement at Xq28 that causes severe hemophilia A as a result of homologous recombination between inverted repeats

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dc.contributor.author El Maarri, O.
dc.contributor.author Pezeshkpoor, B.
dc.contributor.author Rost, S.
dc.contributor.author Oldenburg, J.
dc.date.accessioned 2017-09-14T11:57:09Z
dc.date.available 2017-09-14T11:57:09Z
dc.date.copyright 2012 en_US
dc.identifier.issn 1538-7836 en_US
dc.identifier.uri http://hdl.handle.net/10725/6192
dc.description.abstract Background:   Intrachromosomal homologous recombination between inverted repeats on the X chromosome account for about half of severe hemophilia A cases. Repeats in F8 intron 1 and intron 22 can recombine with homologous inverted repeats located about 200 kb upstream and 500 kb downstream of F8, respectively, resulting in partial sequence inversion of the F8 open reading frame and, subsequently, no functional protein production. Objectives:  In the present study, we characterize a third novel homologous recombination at Xq28 consistent with absence of F8 transcription that we previously reported for the affected chromosome of the index patient as well as his mother and sister. Results:  The rearrangement occurs between a repeat in F8 intron 1 (Int1R-1) and an inverted identical repeat (Int1R-2d) in intron 2 of a duplicated copy of IKBKG located about 386 kb upstream of F8. The rearrangement was confirmed by Southern blot and inverse PCR and results in failure of PCR amplification across Int1R-1. Conclusion:  We developed a PCR-based diagnostic method that can be used to screen for this genetic rearrangement in cases of severe hemophilia A for which mutations cannot be identified. en_US
dc.language.iso en en_US
dc.title Identification of a third rearrangement at Xq28 that causes severe hemophilia A as a result of homologous recombination between inverted repeats en_US
dc.type Article en_US
dc.description.version Published en_US
dc.author.school SAS en_US
dc.author.idnumber 201508713 en_US
dc.author.department Natural Sciences en_US
dc.description.embargo N/A en_US
dc.relation.journal Journal of Thrombosis and Haemostasis en_US
dc.journal.volume 10 en_US
dc.journal.issue 8 en_US
dc.article.pages 1600-1608 en_US
dc.identifier.doi http://dx.doi.org/10.1111/j.1538-7836.2012.04809.x en_US
dc.identifier.ctation Pezeshkpoor, B., Rost, S., Oldenburg, J., & EL‐MAARRI, O. (2012). Identification of a third rearrangement at Xq28 that causes severe hemophilia A as a result of homologous recombination between inverted repeats. Journal of Thrombosis and Haemostasis, 10(8), 1600-1608. en_US
dc.author.email osman.elmaarri@lau.edu.lb en_US
dc.identifier.tou http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.php en_US
dc.identifier.url http://onlinelibrary.wiley.com/doi/10.1111/j.1538-7836.2012.04809.x/full en_US
dc.author.affiliation Lebanese American University en_US


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