Novel One-Step Multiplex PCR-Based Method for HLA Typing and Preimplantational Genetic Diagnosis of β-Thalassemia
Joint Authors
García-Lozano, Juan Carlos
Peciña, Ana
Antiñolo, Guillermo
Lozano-Arana, Maria Dolores
Borrego, Salud
Fernández, Raquel María
Source
Issue
Vol. 2013, Issue 2013 (31 Dec. 2013), pp.1-9, 9 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2013-04-04
Country of Publication
Egypt
No. of Pages
9
Main Subjects
Abstract EN
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 β-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 β-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.
American Psychological Association (APA)
Fernández, Raquel María& Peciña, Ana& Lozano-Arana, Maria Dolores& García-Lozano, Juan Carlos& Borrego, Salud& Antiñolo, Guillermo. 2013. Novel One-Step Multiplex PCR-Based Method for HLA Typing and Preimplantational Genetic Diagnosis of β-Thalassemia. BioMed Research International،Vol. 2013, no. 2013, pp.1-9.
https://search.emarefa.net/detail/BIM-1004656
Modern Language Association (MLA)
Fernández, Raquel María…[et al.]. Novel One-Step Multiplex PCR-Based Method for HLA Typing and Preimplantational Genetic Diagnosis of β-Thalassemia. BioMed Research International No. 2013 (2013), pp.1-9.
https://search.emarefa.net/detail/BIM-1004656
American Medical Association (AMA)
Fernández, Raquel María& Peciña, Ana& Lozano-Arana, Maria Dolores& García-Lozano, Juan Carlos& Borrego, Salud& Antiñolo, Guillermo. Novel One-Step Multiplex PCR-Based Method for HLA Typing and Preimplantational Genetic Diagnosis of β-Thalassemia. BioMed Research International. 2013. Vol. 2013, no. 2013, pp.1-9.
https://search.emarefa.net/detail/BIM-1004656
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1004656