2025 / 05

DOI: 10.24075/vrgmu.2025.055
Авторские права: © 2025 принадлежат авторам. Лицензиат: РНИМУ им. Н.И. Пирогова.
Статья размещена в открытом доступе и распространяется на условиях лицензии Creative Commons Attribution (CC BY).

МНЕНИЕ

В медицине следует избегать терминов «доминантный» и «рецессивный» из-за развития генной терапии

А. М. Гамисония, Д. В. Ребриков
Информация об авторах

Российский национальный исследовательский медицинский университет (Пироговский Университет), Москва, Россия

Для корреспонденции: Алина Мухадиновна Гамисония
ул. Островитянова, д. 1, г. Москва, 117997, москва; ur.liam@ayinosimagma

Информация о статье

Финансирование: работа выполнена в рамках Государственного задания МЗ РФ Рег № 123021500064-0 «Разработка технологии персонализированных генотерапевтических лекарственных препаратов на платформе ААВ и препаратов для лечения синдрома Санфилиппо и множественной эпифизарной дисплазии».

Благодарности: авторы признательны Сергею Глаголеву за критические комментарии.

Вклад авторов: А. М. Гамисония — анализ и обобщение данных литературы, написание текста и оформление рукописи; Д. В. Ребриков — критический пересмотр и редактирование текста рукописи.

Статья получена: 23.10.2025 Статья принята к печати: 23.10.2025 Опубликовано online: 31.10.2025
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  1. McColgan, P., & Tabrizi, S. J. (2018). Huntington's disease: a clinical review. European journal of neurology. 25 (1): 24–34. Available from: https://doi.org/10.1111/ene.13413.
  2. Suetterlin K, Matthews E, Sud R, McCall S, Fialho D, Burge J, et al. Translating genetic and functional data into clinical practice: a series of 223 families with myotonia. Brain: a journal of neurology. 2022; 145 (2): 607–20. Available from: https://doi.org/10.1093/brain/awab344.
  3. Chen C, Dong XP. Epidemiological characteristics of human prion diseases. Infectious diseases of poverty. 2016; 5 (1): 47. Available from: https://doi.org/10.1186/s40249-016-0143-8.
  4. Sommen M, Schrauwen I, Vandeweyer G, Boeckx N, Corneveaux JJ, van den Ende J, et al. DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System. Human mutation. 2016; 37 (8): 812–9. Available from: https://doi.org/10.1002/humu.22999.
  5. Polgreen PM, Comellas AP. Clinical Phenotypes of Cystic Fibrosis Carriers. Annual review of medicine. 2022; 73: 563–74. Available from: https://doi.org/10.1146/annurev-med-042120-020148.
  6. van Spronsen FJ, Blau N, Harding C, Burlina A, Longo N, Bosch AM. Phenylketonuria. Nature reviews. Disease primers. 2021; 7 (1): 36. Available from: https://doi.org/10.1038/s41572-021-00267-0.
  7. Berntorp E, Fischer K, Hart DP, Mancuso ME, Stephensen D, Shapiro AD, et al. Haemophilia. Nature reviews. Disease primers. 2021; 7 (1): 45. Available from: https://doi.org/10.1038/s41572-021-00278-x.
  8. Iarossi G, Coppè AM, Passarelli C, Maltese PE, Sinibaldi L, Cappelli A, et al. Blue Cone Monochromatism with Foveal Hypoplasia Caused by the Concomitant Effect of Variants in OPN1LW/OPN1MW and GPR143 Genes. International journal of molecular sciences. 2021; 22 (16): 8617. Available from: https://doi.org/10.3390/ijms22168617.
  9. Renieri A, Meloni I, Longo I, Ariani F, Mari F, Pescucci C, Cambi F. Rett syndrome: the complex nature of a monogenic disease. Journal of molecular medicine (Berlin, Germany). 2003; 81 (6): 346–54. Available from: https://doi.org/10.1007/s00109-003-0444-9.
  10. Chen S, Parmigiani G. Meta-analysis of BRCA1 and BRCA2 penetrance. Journal of clinical oncology: official journal of the American Society of Clinical Oncology. 2007; 25 (11): 1329–33. Available from: https://doi.org/10.1200/JCO.2006.09.1066.
  11. Jiao SY, Yang YH, Chen SR. Molecular genetics of infertility: loss-of-function mutations in humans and corresponding knockout/ mutated mice. Human reproduction update. 2021; 27 (1): 154– 89. Available from: https://doi.org/10.1093/humupd/dmaa034.
  12. Malik I, Kelley CP, Wang ET, Todd PK. Molecular mechanisms underlying nucleotide repeat expansion disorders. Nature reviews. Molecular cell biology. 2021; 22 (9): 589–607. Available from: https://doi.org/10.1038/s41580-021-00382-6.
  13. Judge DP, Biery NJ, Keene DR, Geubtner J, Myers L, Huso DL, et al. Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome. The Journal of clinical investigation. 2004; 114 (2): 172–81. Available from: https://doi.org/10.1172/JCI20641.
  14. Lindsay EA, Vitelli F, Su H, Morishima M, Huynh T, Pramparo T, et al. Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice. Nature. 2001; 410 (6824): 97–101. Available from: https://doi.org/10.1038/35065105.
  15. Metcalfe K, Simeonov E, Beckett W, Donnai D, Tassabehji M. Autosomal dominant inheritance of Williams-Beuren syndrome in a father and son with haploinsufficiency for FKBP6. Clinical dysmorphology. 2005; 14 (2): 61–65.
  16. Bougeard G, Renaux-Petel M, Flaman JM, Charbonnier C, Fermey P, Belotti M, et al. Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers. Journal of clinical oncology: official journal of the American Society of Clinical Oncology. 2015; 33 (21): 2345– 52. Available from: https://doi.org/10.1200/JCO.2014.59.5728.
  17. Chu DT, Vu Ngoc Suong M, Vu Thi H, Vu TD, Nguyen MH, Singh V. The expression and mutation of BRCA1/2 genes in ovarian cancer: a global systematic study. Expert review of molecular diagnostics. 2023; 23 (1): 53–61. Available from: https://doi.org/10.1080/1473 7159.2023.2168190.
  18. Doisne N, Grauso M, Mougenot N, Clergue M, Souil C, Coulombe A. In vivo Dominant-Negative Effect of an SCN5A Brugada Syndrome Variant. Frontiers in physiology. 2021; 12: 661413. Available from: https://doi.org/10.3389/fphys.2021.661413.
  19. Bertolacini CD, Ribeiro-Bicudo LA, Petrin A, Richieri-Costa A, Murray JC. Clinical findings in patients with GLI2 mutations--phenotypic variability. Clinical genetics. 2012; 81 (1): 70–75. Available from: https://doi.org/10.1111/j.1399-0004.2010.01606.x.
  20. Shubina J, Tolmacheva E, Maslennikov D, Kochetkova T, Mukosey I, Sadelov I, et al. WES-based screening of 7,000 newborns: A pilot study in Russia. HGG Adv. 2024; 10; 5 (4): 100334. Available from: https://doi.org/10.1016/j.xhgg.2024.100334.