dc.creator | Fernández, Raquel María | es |
dc.creator | Peciña, Ana | es |
dc.creator | Lozano Arana, María Dolores | es |
dc.creator | García-Lozano, Juan Carlos | es |
dc.creator | Borrego, Salud | es |
dc.creator | Antiñolo Gil, Guillermo | es |
dc.date.accessioned | 2021-04-27T18:30:15Z | |
dc.date.available | 2021-04-27T18:30:15Z | |
dc.date.issued | 2013 | |
dc.identifier.citation | Fernández, 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.issn | 2314-6133 | es |
dc.identifier.uri | https://hdl.handle.net/11441/107999 | |
dc.description.abstract | Preimplantation 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.format | application/pdf | es |
dc.format.extent | 9 | es |
dc.language.iso | eng | es |
dc.publisher | Hindawi | es |
dc.relation.ispartof | BioMed Research International, art.n.585106. | |
dc.rights | Attribution-NonCommercial-NoDerivatives 4.0 Internacional | * |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | * |
dc.subject | B-thalassemia | es |
dc.subject | Beta thalassemia | es |
dc.subject | HLA typing | es |
dc.subject | Infertility therapy | es |
dc.title | Novel One-Step Multiplex PCR-Based Method for HLA Typing and Preimplantational Genetic Diagnosis of B-Thalassemia | es |
dc.type | info:eu-repo/semantics/article | es |
dcterms.identifier | https://ror.org/03yxnpp24 | |
dc.type.version | info:eu-repo/semantics/acceptedVersion | es |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | es |
dc.contributor.affiliation | Universidad de Sevilla. Departamento de Cirugía | es |
dc.relation.publisherversion | https://www.hindawi.com/journals/bmri/2013/585106/ | es |
dc.identifier.doi | 10.1155/2013/585106 | es |
dc.journaltitle | BioMed Research International | es |
dc.publication.initialPage | 585106 | es |