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Production of DNA libraries for preimplantation genetic testing of aneuploidies using whole-genome amplification based on multiple-strand displacement amplification
https://doi.org/10.25557/2073-7998.2025.10.87-88
Abstract
Background. Multiple strand displacement amplification (MDA) is the preferred method for whole genome amplification (WGA) in preimplantation genetic testing (PGT) for monogenic diseases (PGT-M).
Objective. To investigate the potential of using MDA-based WGA products for aneuploidy analysis with next-generation sequencing (NGS).
Methods. WGA products from two human blastocyst samples were analyzed using NGS. The WGA process was performed using the REPLi-g Mini Kit (Qiagen), and DNA libraries were generated using the SyntEra-DNA Reagent Kit (Syntol). Bioinformatics analysis was carried out using the Genomenal software (Novel Software Systems).
Results. Based on aCGH and NGS results, molecular karyotypes were generated for blastocysts, which were consistent with minor discrepancies.
Conclusions. The PGA product, obtained using MDA, can be successfully analyzed using NGS, allowing for the use of a single amplicon for both PGT-A and PGT-M applications.
Supporting agencies: The work was funded by a state assignment from the Ministry of Science and Higher Education of Russia.
About the Authors
D. I. Zhigalina
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
10, Naberejnaya Ushaiki, Tomsk, 634050
I. Zh. Zhalsanova
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
10, Naberejnaya Ushaiki, Tomsk, 634050
S. N. Gosudarkina
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
10, Naberejnaya Ushaiki, Tomsk, 634050
O. R. Kanbekova
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
10, Naberejnaya Ushaiki, Tomsk, 634050
N. A. Skryabin
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
10, Naberejnaya Ushaiki, Tomsk, 634050
References
1. Soloveva E.V., Skleimova M.M., Minaycheva L.I., et al. Provedeniye preimplantatsionnogo issledovaniya spinotserebellyarnoy ataksii pervogo tipa [Preimplantation genetic testing for mucopolysaccharidosis type II: a case report. Meditsinskaya genetika [Medical Genetics]. 2022;21(10):12-18. (In Russ.)
2. Borgström E., Paterlini M., Mold J.E., et al. Comparison of whole genome amplification techniques for human single cell exome sequencing. PLoS One. 2017;12(2):e0171566. DOI 10.1371/journal.pone.0171566.
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For citations:
Zhigalina D.I., Zhalsanova I.Zh., Gosudarkina S.N., Kanbekova O.R., Skryabin N.A. Production of DNA libraries for preimplantation genetic testing of aneuploidies using whole-genome amplification based on multiple-strand displacement amplification. Medical Genetics. 2025;24(10):87-88. (In Russ.) https://doi.org/10.25557/2073-7998.2025.10.87-88
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