Fernández, Raquel MaríaPeciña, AnaLozano Arana, María DoloresGarcía-Lozano, Juan CarlosBorrego, SaludAntiñolo Gil, Guillermo2021-04-272021-04-272013Fernández, 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.585106.2314-6133https://hdl.handle.net/11441/107999Preimplantation 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.application/pdf9engAttribution-NonCommercial-NoDerivatives 4.0 Internacionalhttp://creativecommons.org/licenses/by-nc-nd/4.0/B-thalassemiaBeta thalassemiaHLA typingInfertility therapyinfo:eu-repo/semantics/articleinfo:eu-repo/semantics/openAccesshttps://doi.org/10.1155/2013/585106