medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.25557/2073-7998.2022.01.3-13medgen-2018Research ArticleСтатьиНаследственные болезни и программы молекулярно-генетического скрининга в генетически изолированных популяцияхHereditary diseases and carrier’s screening programs in genetically isolated populationsСаввинаМ. Т.SavvinaM. T.mira@savv.inМаксимоваН. Р.MaksimovaN. R.noemail@neicon.ruСухомясоваА. Л.SukhomyasovaA. L.noemail@neicon.ruЛебедевИ. Н.LebedevI. N.noemail@neicon.ruФГАОУ ВО «Северо-Восточный федеральный университет им. М.К. Аммосова»РоссияM. K. Ammosov North-Eastern Federal UniversityRussian FederationФГАОУ ВО «Северо-Восточный федеральный университет им. М.К. Аммосова»; ГАУ Республики Саха (Якутия) «Республиканская больница № 1 - Национальный центр медицины»РоссияM. K. Ammosov North-Eastern Federal University; Republic Hospital №1 - National Center of MedicineRussian FederationНаучно-исследовательский институт медицинской генетики, Томский национальный исследовательский медицинский центр Российской академии наукРоссияResearch Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of SciencesRussian Federation202222042022211313Copyright © Саввина М.Т., Максимова Н.Р., Сухомясова А.Л., Лебедев И.Н., 20222022Саввина М.Т., Максимова Н.Р., Сухомясова А.Л., Лебедев И.Н.Savvina M.T., Maksimova N.R., Sukhomyasova A.L., Lebedev I.N.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.medgen-journal.ru/jour/article/view/2018

Генетические изоляты - особый тип популяций, которые на протяжении многих веков держались обособленно, демонстрируя меньшую генетическую изменчивость и отличаясь по своей генетической структуре от представителей других групп. Высокая степень изоляции малочисленных популяций человека на протяжении многих поколений создавала условия для дрейфа генов. Вследствие популяционных механизмов, таких как эффект основателя или эффект бутылочного горлышка, в изолированных популяциях наблюдается отягощение генетическим грузом наследственных заболеваний, что негативно воздействует на социально-экономический уровень, а также качество жизни населения. В настоящем обзоре изложены сведения о наследственных болезнях, обнаруженных в изолированных популяциях мира, о существующих программах молекулярно-генетического скрининга гетерозиготного носительства мутаций в генах наследственных болезней и о целесообразности внедрения таких программ в практику медико-генетического консультирования.

There are populations that have kept apart for many centuries, show less genetic variability and they differ in their genetic structure from representatives of other groups - genetic isolates. The high degree of isolation of small human populations for many generations has created good conditions for gene drift. Due to population mechanisms, such as the founder effect or the bottleneck effect there is a genetic burden of hereditary diseases, which observed in isolated populations, that negatively affects both social and economic level, as well as the quality of life. This review provides information about hereditary diseases in genetically isolated populations, existing carrier’s screening programs and the feasibility of its implementation.

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The authors declare that there are no conflicts of interest present.