Preview

Medical Genetics

Advanced search

Single cell and whole genome amplification product validation of preimplantation genetic testing systems for monogenic disorders

https://doi.org/10.25557/2073-7998.2020.11.63-64

Abstract

Pre-examination single cell validation was performed for preimplantation genetic testing (PGT-M) for 9 monogenic disorders by nested PCR for STR and pathogenic variants. Totally 109 single cells and 24 WGA products (by MDA) were analyzed.

About the Authors

E. V. Soloveva
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation


O. R. Kanbekova
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation


D. I. Zhigalina
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation


N. A. Skryabin
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation


L. I. Minaycheva
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation


References

1. Simpson J.L., Rechitsky S., Kuliev A. Before the beginning: the genetic risk of a couple aiming to conceive. Fertil Steril. 2019;112(4):622-630. doi: 10.1016/j.fertnstert.2019.08.002.

2. Harton G.L., De Rycke M, Fiorentino F. et al. ESHRE PGD consortium best practice guidelines for amplification-based PGD. Human Reproduction. 2011,1: 33-40. doi:10.1093/humrep/deq231.

3. Deans Z., Fiorentino F., Biricik A. et al. The experience of 3 years of external quality assessment of preimplantation genetic diagnosis for cystic fibrosis. European Journal of Human Genetics. 2013;21:800-806. doi: 10.1038/ejhg.2012.244.


Review

For citations:


Soloveva E.V., Kanbekova O.R., Zhigalina D.I., Skryabin N.A., Minaycheva L.I. Single cell and whole genome amplification product validation of preimplantation genetic testing systems for monogenic disorders. Medical Genetics. 2020;19(11):63-64. (In Russ.) https://doi.org/10.25557/2073-7998.2020.11.63-64

Views: 355


Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 License.


ISSN 2073-7998 (Print)