ISSN Print 2500–1094
ISSN Online 2542–1204
Bulletin of RSMU
BIOMEDICAL JOURNAL OF PIROGOV UNIVERSITY (MOSCOW, RUSSIA)
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.
