ISSN Print 2500–1094
ISSN Online 2542–1204
BIOMEDICAL JOURNAL OF PIROGOV UNIVERSITY (MOSCOW, RUSSIA)
Copyright: © 2023 by the authors. Licensee: Pirogov University.
This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution license (CC BY).
This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution license (CC BY).
ORIGINAL RESEARCH
Detection of SMN1 loss with PCR-based screening test
About authors
1 Federal State Budgetary Educational Institution of Higher Education Academician I.P. Pavlov First St. Petersburg State Medical University of the Ministry of Healthcare of Russian Federation, Russia
2 DNA-Technology LLC, Moscow, Russia
Correspondence should be addressed: Carina C. Cherebillo
6/8, Lva Tolstogo, Saint-Petersburg, 197022, Russia: ur.liam@olliberehc.k
About paper
Funding: All tests was provided by DNA-Technology LLC.
Author contribution: Nazarov VD, Lapin SV — concept; Sidorenko DV, Devyatkina YA, Musonova AC — investigation; Petrova TV, Nikiforova AI, Ivanova AV — methodology; Nazarov VD, Cherebillo CC — wrining, original draft preparation; Cherebillo CC, Lapin SV, Petrova TV, Nikiforova AI, Ivanova AV — writing, review & editing.
Compliance with ethical standards: this study was approved by the local Ethics Committee of the Pavlov First Saint Petersburg State Medical University (№ 274 from 26.06.2023). Written informed consent was obtained from all participants or their parents. The 1975 Declaration of Helsinki was rigorously adhered to secure the rights of the patients.
Received: 2023-05-30
Accepted: 2023-06-22
Published online: 2023-06-30
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Fig. Schematic representation of SMN1 and SMN2 genotypes in each subgroup
Table 1. The number of copies SMN1 and SMN2 genes according to MLPA assay in Group 2
Table 2. Detection channels of PCR-products
Table 3. PCR cycling conditions
Table 4. Comparison of the results obtained by MLPA assay and PCR-based test assay technology in Group 1
Note: TP — true positive; FP — false positive; TN — true negative; FN — false negative.
Table 5. Comparison of the results obtained by MLPA assay and PCR-based test assay technology in Group 2
Note: TP — true positive; FP — false positive; TN — true negative; FN — false negative.
