Лаборатория ДНК-диагностики

С момента основания и по настоящее время основным практическим направлением работы лаборатории является разработка и совершенствование методов ДНК-диагностики наследственных моногенных заболеваний в рамках выработанной в 1996 году концепции ДНК-диагностика «on-line» или ДНК-диагностика «по требованию», которая подразумевает разработку диагностического протокола для каждой конкретной семьи, даже с очень редким наследственным заболеванием. В рамках реализации этого направления лаборатория непрерывно внедряет в практическую деятельность самые современные методы анализа.

Основными задачами лаборатории ДНК-диагностики являются:

• Поиск молекулярной причины наследственной болезни
• Проведение подтверждающей, пренатальной, пресимптоматической диагностик, диагностики носительства
• Разработка и оптимизация диагностических систем
• Научное обеспечении программ селективного и неонатального скрининга на наследственные заболевания
• Помощь лечащему врачу в интерпретации результатов исследования.

Основные результаты работы лаборатории:

• Участие в картировании генетических локусов атаксии Фридрейха, хореи Гентингтона.
• Картирование и идентификация генов:
  2000 год – CMT2E OMIM 607684 – NEFL,
  2001 год – CMT2F OMIM 606595 – HSPB1,
  2004 год – CMT2A2 OMIM 607684 – MFN2,
  2007 год – Чувашский остеопетроз – TCIRG1,
  2008 год – Якутская метгемоглобинемия – DIA1.
• Разработка систем ДНК-диагностики более 300 моногенных заболеваний.
• Разработано и внедрено в практическую деятельность 24 технологии диагностики моногенных болезней.
• Получено 5 патентов на изобретения/полезные модели.
• Под руководством сотрудников лаборатории защищено 8 диссертаций на соискание ученой степени доктора медицинских/биологических наук и 46 на соискание ученой степени кандидата медицинских/биологических наук.

Основные направления научной работы лаборатории на сегодняшний день:

• изучение локусной гетерогенности различной моногенной патологии у российских больных, картирование и идентификация новых генов моногенных болезней;
• исследование частот и спектров мутаций, ответственных за менделирующие заболевания у жителей различных регионов;
• создание регион-специфичных алгоритмов клинико-молекулярно-генетической диагностики наследственной патологии;
• разработка и совершенствование методов ДНК-диагностики моногенных болезней, внедрение в практику новых технологий диагностики.

1. Shchagina O, Gilazova L, Filatova A, Vafina Z, Murtazina A, Chigvintceva P, Kudryashova O, Polyakov A, Kutsev S, Bulakh M, et al. The Basis of Diversity in Laminopathy Phenotypes Caused by Variants in the Intron 8 Donor Splice Site of the LMNA International Journal of Molecular Sciences. 2025; 26(3):1015. https://doi.org/10.3390/ijms26031015
2. Chausova, P., Cherevatova, T., Dadali, E., Murtazina, A., Bulakh, M., Kurbatov, S., Anisimova, I., Kanivets, I., Udalova, V., Rudenskaya, G., Demina, N., Sharkova, I., Monakhova, A., Tsygankova, P., Markova, T., Ryzhkova, O., Shatohina, O., Galkina, V., Borovikov, A., ... Polyakov, A. (2025). A Spectrum of Pathogenic Variants in the LAMA2Gene in the Russian Federation. International Journal of Molecular Sciences, 26(3), 1257. https://doi.org/10.3390/ijms26031257
3. Ismagilova OR, Adyan TA, Beskorovainaya TS and Polyakov AV (2025) Molecular genetic analysis of Rubinstein–Taybi syndrome in Russian patients. Front. Genet. 16:1516565. doi: 10.3389/fgene.2025.1516565
4. Shchagina O, Murtazina A, Chausova P, Orlova M, Dadali E, Kurbatov S, Kutsev S and Polyakov A (2024) Genetic Landscape of SH3TC2 variants in Russian patients with Charcot–Marie–Tooth disease. Genet. 15:1381915. doi: 10.3389/fgene.2024.1381915
5. Ogorodova, N.Y., Stepanova, A.A., Shchagina, O.A. et al. Frequent Genetic Variants of Autosomal Recessive Nonsyndromic Forms of Inherited Retinal Diseases in the Russian Federation. Russ J Genet 60, 503–515 (2024). https://doi.org/10.1134/S1022795424040100
6. Akhkiamova M, Polyakov A, Marakhonov A, Voronin S, Saifullina E, Vafina Z, Michalchuk K, Braslavskaya S, Chukhrova A, Ryadninskaya N, Kutsev S, Shchagina O. Rare Variants of the SMN1 Gene Detected during Neonatal Screening. Genes (Basel). 2024 Jul 21;15(7):956. doi: 10.3390/genes15070956. PMID: 39062735; PMCID: PMC11275604.
7. Orlova M, Gundorova P, Kadnikova V, Polyakov A. Spectrum of pathogenic variants and high prevalence of pathogenic BBS7 variants in Russian patients with Bardet-Biedl syndrome. Front Genet. 2024 Jul 18;15:1419025. doi: 10.3389/fgene.2024.1419025. PMID: 39092430; PMCID: PMC11291329.
8. Borovikov A, Marakhonov A, Murtazina A, Davydenko K, Filatova A, Galeeva N, Kadnikova V, Ogorodova N, Gorodilova D, Kanivets I, Pyankov D, Zherdev K, Petel’guzov A, Zubkov P, Polyakov A, Shchagina O and Skoblov M (2024) Cases report: Mosaic structural variants of the EXT1 gene in previously genetically unconfirmed multiple osteochondromas. Genet. 15:1435493. doi: 10.3389/fgene.2024.1435493
9. Ogorodova N, Stepanova A, Kadyshev V, Kuznetsova S, Ismagilova O, Chukhrova A, Polyakov A, Kutsev S, Shchagina O. A Comparative Evaluation of the Genetic Variant Spectrum in the USH2A Gene in Russian Patients with Isolated and Syndromic Forms of Retinitis Pigmentosa. International Journal of Molecular Sciences. 2024; 25(22):12169. https://doi.org/10.3390/ijms252212169
10. Shchagina O, Gracheva E, Chukhrova A, Bliznets E, Bychkov I, Kutsev S, Polyakov A. Functional Characterization of Two Novel Intron 4 SERPING1 Gene Splice Site Pathogenic Variants in Families with Hereditary Angioedema. 2024; 12(1):72. https://doi.org/10.3390/biomedicines12010072 - не считается, ушла прошлым годом
11. Shchagina O, Stepanova A, Mishakova P, Kadyshev V, Demina N, Bessonova L, Ionova S, Guseva D, Marakhonov A, Zinchenko R, et al. Common Variants in the TYR Gene with Unclear Pathogenicity as the Cause of Oculocutaneous Albinism in a Cohort of Russian Patients. Biomedicines. 2024; 12(10):2234. https://doi.org/10.3390/biomedicines12102234
12. Marakhonov AV, Efimova IY, Mukhina AA, Zinchenko RA, Balinova NV, Rodina Y, Pershin D, Ryzhkova OP, Orlova AA, Zabnenkova VV, Cherevatova TB, Beskorovainaya TS, Shchagina OA, Polyakov AV, Markova ZG, Minzhenkova ME, Shilova NV, Larin SS, Khadzhieva MB, Dudina ES, Kalinina EV, Mudaeva DA, Saydaeva DH, Matulevich SA, Belyashova EY, Yakubovskiy GI, Tebieva IS, Gabisova YV, Irinina NA, Nurgalieva LR, Saifullina EV, Belyaeva TI, Romanova OS, Voronin SV, Shcherbina A, Kutsev SI. Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns. J Clin Immunol. 2024 Apr 5;44(4):93. doi: 10.1007/s10875-024-01691-z. PMID: 38578360.
13. Artem Borovikov, Nailya Galeeva, Andrey Marakhonov, Aysylu Murtazina, Varvara Kadnikova, Kseniya Davydenko, Anna Orlova, Peter Sparber, Tatiana Markova, Maria Orlova, Darya Osipova, Tatyana Nagornova, Natalia Semenova, Olga Levchenko, Alexandra Filatova, Margarita Sharova, Peter Vasiluev, Ilya Kanivets, Denis Pyankov, Artem Sharkov, Vasilisa Udalova, Vladimir Kenis, Natalia Nikitina, Maria Sumina, Konstantin Zherdev, Aleksandr Petel'guzov, Oleg Chelpachenko, Pavel Zubkov, Ivan Dan, Andrey Snetkov, Alexandra Akinshina, Yury Buklemishev, Oxana Ryzhkova, Vyacheslav Tabakov, Ekaterina Zakharova, Sergey Korostelev, Rena Zinchenko, Mikhail Skoblov, Alexander Polyakov, Elena Dadali, Sergey Kutsev, Olga Shchagina, "The Missing Piece of the Puzzle: Unveiling the Role of PTPN11 Gene in Multiple Osteochondromas in a Large Cohort Study", Human Mutation, vol. 2024, Article ID 8849348, 13 pages, 2024. https://doi.org/10.1155/2024/8849348
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15. Efimova IY, Zinchenko RA, Marakhonov AV, Balinova NV, Mikhalchuk KA, Shchagina OA, Polyakov AV, Mudaeva DA, Saydaeva DH, Matulevich SA, Parshintseva PD, Belyashova EY, Yakubovskiy GI, Tebieva IS, Gabisova YV, Irinina NA, Jamschikova AV, Nurgalieva LR, Saifullina EV, Nevmerzhitskaya KS, Belyaeva TI, Romanova OS, Voronin SV, Kutsev SI. Epidemiology of Spinal Muscular Atrophy Based on the Results of a Large-Scale Pilot Project on 202,908 Newborns. Pediatr Neurol. 2024 Jul;156:147-154. doi: 10.1016/j.pediatrneurol.2024.04.015. Epub 2024 Apr 24. PMID: 38781723.
16. Chausova P, Murtazina A, Stepanova A, Borovicov A, Kovalskaia V, Ryadninskaya N, Chukhrova A, Ryzhkova O, Poliakov A. X-Linked Myotubular Myopathy in a Female Patient with a Pathogenic Variant in the MTM1 Gene. International Journal of Molecular Sciences. 2023; 24(9):8409. https://doi.org/10.3390/ijms24098409
17. Shchagina O, Kurilova V, Zinina E, Porubov V, Efishova S, Polyakov A. Step-by-Step Double-Trouble OBAIRH and DMD Diagnosis in a One-Year-Old Boy. International Journal of Molecular Sciences. 2023; 24(15):12357. https://doi.org/10.3390/ijms241512357
18. Shchagina O, Orlova M, Murtazina A, Filatova A, Skoblov M, Dadali E. Evaluation of Pathogenicity and Causativity of Variants in the MPZ and SH3TC2 Genes in a Family Case of Hereditary Peripheral Neuropathy. International Journal of Molecular Sciences. 2023; 24(12):9786. https://doi.org/10.3390/ijms24129786
19. Mikhalchuk K, Shchagina O, Chukhrova A, Zabnenkova V, Chausova P, Ryadninskaya N, Vlodavets D, Kutsev SI, Polyakov A. Pilot Program of Newborn Screening for 5q Spinal Muscular Atrophy in the Russian Federation. International Journal of Neonatal Screening. 2023; 9(2):29. https://doi.org/10.3390/ijns9020029
20. Stepanova A, Ogorodova N, Kadyshev V, Shchagina O, Kutsev S, Polyakov A. A Molecular Genetic Analysis of RPE65-Associated Forms of Inherited Retinal Degenerations in the Russian Federation. 2023; 14(11):2056. https://doi.org/10.3390/genes14112056
21. Shchagina O, Fedotov V, Markova T, Shatokhina O, Ryzhkova O, Fedotova T, Polyakov A. Palmoplantar Keratoderma: A Molecular Genetic Analysis of Family Cases. International Journal of Molecular Sciences. 2022; 23(17):9576. https://doi.org/10.3390/ijms23179576
22. Zinina E, Bulakh M, Chukhrova A, Ryzhkova O, Sparber P, Shchagina O, Polyakov A, Kutsev S. Specificities of the DMD Gene Mutation Spectrum in Russian Patients. International Journal of Molecular Sciences. 2022; 23(21):12710. https://doi.org/10.3390/ijms232112710
23. Savostyanov K, Murashkin N, Pushkov A, Zhanin I, Suleymanov E, Akhkiamova M, Shchagina O, Balanovska E, Epishev R, Polyakov A, Fisenko A. Targeted NGS in Diagnostics of Genodermatosis Characterized by the Epidermolysis Bullosa Symptom Complex in 268 Russian Children. International Journal of Molecular Sciences. 2022; 23(22):14343. https://doi.org/10.3390/ijms232214343
24. Shatokhina O, Galeeva N, Stepanova A, Markova T, Lalayants M, Alekseeva N, Tavarkiladze G, Markova T, Bessonova L, Petukhova M, Guseva D, Anisimova I, Polyakov A, Ryzhkova O, Bliznetz E. Spectrum of Genes for Non-GJB2-Related Non-Syndromic Hearing Loss in the Russian Population Revealed by a Targeted Deafness Gene Panel. International Journal of Molecular Sciences. 2022; 23(24):15748. https://doi.org/10.3390/ijms232415748
25. Savostyanov KV, Pushkov AA, Shchagina OA, Maltseva VV,Suleymanov EA, Zhanin IS, Mazanova NN, Fisenko AP, Mishakova PS, Polyakov AV,Balanovska EV, Zinchenko RA and Tsygin AN (2022) Genetic landscape of Nephropathic Cystinosis in Russian Children. Genet. 13:863157. doi:  
26. Markova T, Alekseeva N, Lalayants M, Ryzhkova O, Shatokhina O, Galeeva N, Bliznetz E, Belov O, Chibisova S, Polyakov A, Tavartkiladze G. Audiological Evidence of Frequent Hereditary Mild, Moderate and Moderate-to-Severe Hearing Loss. Journal of Personalized Medicine. 2022; 12(11):1843. https://doi.org/10.3390/jpm12111843
27. Markova TG, Lalayants MR, Alekseeva NN, Ryzhkova OP, Shatokhina OL, Galeeva NM, Bliznetz EA, Weener ME, Belov OA, Chibisova SS, Polyakov AV, Tavartkiladze GA. Early audiological phenotype in patients with mutations in the USH2A gene. Int J Pediatr Otorhinolaryngol. 2022 Apr 15;157:111140. doi: 10.1016/j.ijporl.2022.111140. Epub ahead of print. PMID: 35452909.
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29. Chausova PA, Ryzhkova OP, Rudenskaya GE, Chernykh VB, Shchagina OA, Polyakov AV. A Mosaic Mutation in the LAMA2 Gene in a Case of Merosin-deficient Congenital Muscular Dystrophy. Front Genet. 2021 Oct 29;12:686800. doi: 10.3389/fgene.2021.686800. PMID: 34777456; PMCID: PMC8586452.
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34. Beskorovainaya T., Konovalov F., Demina N., Shchagina O., Pashchenko M., Kanivets I., Pynkov D., Ryzhkova O., Polyakov A. Case Report: Complicated Molecular Diagnosis of MECP2 Gene Structural Rearrangement in a Proband with Rett Syndrome. J Autism Dev Disord (2020). https://doi.org/10.1007/s10803-020-04668-0
35. Hillert A, Anikster Y, Belanger-Quintana A, Burlina A, Burton BK, Carducci C, Chiesa AE, Christodoulou J, Đorđević M, Desviat LR, Eliyahu A, Evers RAF, Fajkusova L, Feillet F, Bonfim-Freitas PE, Giżewska M, Gundorova P, Karall D, Kneller K, Kutsev SI, Leuzzi V, Levy HL, Lichter-Konecki U, Muntau AC, Namour F, Oltarzewski M, Paras A, Perez B, Polak E, Polyakov AV, Porta F, Rohrbach M, Scholl-Bürgi S, Spécola N, Stojiljković M, Shen N, Santana-da Silva LC, Skouma A, van Spronsen F, Stoppioni V, Thöny B, Trefz FK, Vockley J, Yu Y, Zschocke J, Hoffmann GF, Garbade SF, Blau N. The Genetic Landscape and Epidemiology of Phenylketonuria. Am J Hum Genet. 2020 Aug 6;107(2):234-250. doi: 10.1016/j.ajhg.2020.06.006. Epub 2020 Jul 14. PMID: 32668217; PMCID: PMC7413859.
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37. Shchagina, O.; Bessonova, L.; Bychkov, I.; Beskorovainaya, T.; Poliakov, A. A Family Case of Congenital Myasthenic Syndrome-22 Induced by Different Combinations of Molecular Causes in Siblings. Genes 2020, 11, 821. doi.org/10.3390/genes11070821
38. Mironovich O , Dadali E, Malmberg S, Markova T, Ryzhkova O, Poliakov A. Identification of a Novel de Novo Variant in the SYT2 Gene Causing a Rare Type of Distal Hereditary Motor Neuropathy. Genes 2020, 11(11), 1238; https://doi.org/10.3390/genes11111238
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