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Artículo

dc.creatorFernández, Raquel Maríaes
dc.creatorPeciña, Anaes
dc.creatorLozano Arana, María Doloreses
dc.creatorGarcía-Lozano, Juan Carloses
dc.creatorBorrego, Saludes
dc.creatorAntiñolo Gil, Guillermoes
dc.date.accessioned2021-04-27T18:30:15Z
dc.date.available2021-04-27T18:30:15Z
dc.date.issued2013
dc.identifier.citationFernández, R.M., Peciña, A., Lozano Arana, M.D., García-Lozano, J.C., Borrego, S. y Antiñolo Gil, G. (2013). Novel One-Step Multiplex PCR-Based Method for HLA Typing and Preimplantational Genetic Diagnosis of B-Thalassemia. BioMed Research International, art.n.585106.
dc.identifier.issn2314-6133es
dc.identifier.urihttps://hdl.handle.net/11441/107999
dc.description.abstractPreimplantation genetic diagnosis (PGD) of single gene disorders, combined with HLA matching (PGD-HLA), has emerged as a tool for couples at risk of transmitting a genetic disease to select unaffected embryos of an HLA tissue type compatible with that of an existing affected child. Here, we present a novel one-step multiplex PCR to genotype a spectrum of STRs to simultaneously perform HLA typing and PGD for B-thalassemia. This method is being routinely used for PGD-HLA cycles in our department, with a genotyping success rate of 100%. As an example, we present the first successful PGD-HLA typing in Spain, which resulted in the birth of a boy and subsequent successful HSC transplantation to his affected brother, who is doing well 4 years following transplantation. The advantage of our method is that it involves only a round of single PCR for multiple markers amplification (up to 10 markers within the HLA and 6 markers at the B-globin loci). This strategy has allowed us to considerably reduce the optimization of the PCR method for each specific PGD-HLA family as well as the time to obtain molecular results in each cycle.es
dc.formatapplication/pdfes
dc.format.extent9es
dc.language.isoenges
dc.publisherHindawies
dc.relation.ispartofBioMed Research International, art.n.585106.
dc.rightsAttribution-NonCommercial-NoDerivatives 4.0 Internacional*
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/*
dc.subjectB-thalassemiaes
dc.subjectBeta thalassemiaes
dc.subjectHLA typinges
dc.subjectInfertility therapyes
dc.titleNovel One-Step Multiplex PCR-Based Method for HLA Typing and Preimplantational Genetic Diagnosis of B-Thalassemiaes
dc.typeinfo:eu-repo/semantics/articlees
dcterms.identifierhttps://ror.org/03yxnpp24
dc.type.versioninfo:eu-repo/semantics/acceptedVersiones
dc.rights.accessRightsinfo:eu-repo/semantics/openAccesses
dc.contributor.affiliationUniversidad de Sevilla. Departamento de Cirugíaes
dc.relation.publisherversionhttps://www.hindawi.com/journals/bmri/2013/585106/es
dc.identifier.doi10.1155/2013/585106es
dc.journaltitleBioMed Research Internationales
dc.publication.initialPage585106es

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