Heterozygous large deletions of Factor 8 gene in females identified by multiplex PCR-LC

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dc.contributor.author El Maarri, O.
dc.contributor.author Pavlova, A.
dc.contributor.author Forster, T.
dc.contributor.author Delev, D.
dc.contributor.author Muller-Reible, C.
dc.contributor.author Oldenburg, J.
dc.date.accessioned 2017-09-13T12:05:53Z
dc.date.available 2017-09-13T12:05:53Z
dc.date.copyright 2008 en_US
dc.date.issued 2017-09-13
dc.identifier.issn 1365-2516 en_US
dc.identifier.uri http://hdl.handle.net/10725/6182
dc.description.abstract Haemophilia A is the most common X-linked recessive bleeding disorder. In 5% of severely affected patients the mutations responsible for the disease are large deletions encompassing from one exon to the complete Factor 8 (F8) gene. Large deletions in a male haemophilic patient are easily detected by the absence of the corresponding PCR product. However, in female carriers, identification of the various heterozygous large deletions is difficult representing a major limitation to accurate carrier diagnosis. The deletion is masked by the presence of the second allele that serves as template for the PCR reaction. Quantitative PCR can differentiate between the presence of one or two alleles. Here we report an assay based on multiplex amplification of several exons of the F8 gene of various length and subsequent quantitative evaluation of the amplicons by liquid chromatogphy (LC). Using this approach we achieved an accurate classification of 16 female carriers and eight non-carriers for deletions in the F8 gene in 19 investigated families. One mother and one grandmother were classified as non-carriers, underlining the high de novo mutation rate of large deletions in female germ cells. The large deletions in three families were confirmed by fluorescent in situ hybridization. In conclusion, the multiplex PCR-LC technique represents a rapid, simple and reliable method for detection of heterozygous large deletions in female carriers. en_US
dc.language.iso en en_US
dc.title Heterozygous large deletions of Factor 8 gene in females identified by multiplex PCR-LC 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 Haemophilia en_US
dc.journal.volume 14 en_US
dc.journal.issue 3 en_US
dc.article.pages 599-606 en_US
dc.keywords Haemophilia A carriers en_US
dc.keywords Large deletions en_US
dc.keywords Liquid chromatogphy en_US
dc.identifier.doi http://dx.doi.org/10.1111/j.1365-2516.2007.01629.x en_US
dc.identifier.ctation Pavlova, A., Förster, T., Delev, D., Schröder, J., EL‐MAARRI, O., MÜLLER‐REIBLE, C., & Oldenburg, J. (2008). Heterozygous large deletions of Factor 8 gene in females identified by multiplex PCR‐LC. Haemophilia, 14(3), 599-606. 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.1365-2516.2007.01629.x/full en_US
dc.author.affiliation Lebanese American University en_US

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