Novel one-step multiplex PCR-based method for HLA typing and preimplantational genetic diagnosis of β -thalassemia

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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 -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 -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.

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Fernández, R. M., Peciña, A., Lozano-Arana, M. D., García-Lozano, J. C., Borrego, S., & Antiñolo, G. (2013). Novel one-step multiplex PCR-based method for HLA typing and preimplantational genetic diagnosis of β -thalassemia. BioMed Research International, 2013. https://doi.org/10.1155/2013/585106

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