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Change in the number of trinucleotide repeats in the ATXN1 gene in human embryos
https://doi.org/10.25557/2073-7998.2025.09.117-118
Abstract
Background. Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant disorder related to expansion diseases. A new method for the prevention of SCA1 is PGT-M (preimplantation genetic testing for monogenic diseases).
Purpose. Analysis of the change in the number of trinucleotide repeats in embryos tested during PGT SCA1.
Methods. The study material consisted of trophectoderm from 5-6 day-old embryos obtained through an IVF-ICSI cycle from couples in which one spouse had an increased number of CAG repeats in the ATXN1 gene. The research was conducted using nested PCR with detection of the number of trinucleotide repeats in the ATXN1 gene and linked indirect microsatellite markers.
Results. Testing was conducted on 29 embryos from three unrelated families. A haplotype associated with the expansion was identified in 13 embryos. Changes in the number of trinucleotide repeats in the ATXN1 gene were observed in eight embryos.
Conclusion. Changes in the number of CAG repeats in the ATXN1 gene were identified for alleles with expansion: both increases and decreases.
Keywords
PGT-M,
Preimplantation testing for monogenic/single gene defects,
spinocerebellar ataxia type 1 (SCA1),
ATXN1 gene,
expansion of trinucleotide repeats
Supporting agencies: The work was performed within the framework of the state assignment of the Ministry of Education and Science of the Russian Federation (Scientific Research Institute of Medical Genetics, Tomsk National Research Center of the Russian Academy of Sciences); partially at the expense of the patient.
About the Authors
M. M. Skleimova
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
Mariya M. Skleimova
10, Naberejnaya Ushaiki, Tomsk, 634050
E. V. Soloveva
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
L. I. Minaycheva
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
A. F. Garaeva
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
E. O. Churkin
ART Center of the Siberian State Medical University of the Ministry of Health of Russia
Russian Federation
Russian Federation
2, Moskovsky Trakt, Tomsk, 634050
Y. V. Okkel
ART Center of the Siberian State Medical University of the Ministry of Health of Russia
Russian Federation
Russian Federation
2, Moskovsky Trakt, Tomsk, 634050
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
G. N. Seitova
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
V. A. Stepanov
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
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2. Puzyrev V.P., Maximova N.P. Hereditary diseases among Yakuts. Russ J Genet. 2008; 44(10): 1141–1147. https://doi.org/10.1134/S1022795408100037
3. Soloveva E.V., Skleimova M.M., Minaycheva L.I. et al. PGT-M for spinocerebellar ataxia type 1: development of a STR panel and a report of two clinical cases. Journal of Assisted Reproduction and Genetics. 2024.41:1273–1283. DOI 10.1007/s10815-024-03105-w.
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For citations:
Skleimova M.M., Soloveva E.V., Minaycheva L.I., Garaeva A.F., Churkin E.O., Okkel Y.V., Zhigalina D.I., Seitova G.N., Stepanov V.A. Change in the number of trinucleotide repeats in the ATXN1 gene in human embryos. Medical Genetics. 2025;24(9):117-118. (In Russ.) https://doi.org/10.25557/2073-7998.2025.09.117-118
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