fcmedicineФундаментальная и клиническая медицинаFundamental and Clinical Medicine2500-07642542-0941КемГМУ10.23946/2500-0764-2022-7-1-102-112fcmedicine-521Research ArticleЛЕКЦИИLECTURESЦитогенетические методы в практике современных медико-биологических исследований. Часть II: структурные перестройки хромосом человекаCytogenetic techniques in current biomedical research. Part II: chromosomal rearrangementshttps://orcid.org/0000-0003-1169-715XВолковА. Н.VolkovА. N.

Волков Алексей Николаевич, кандидат биологических наук, доцент кафедры биологии с основами генетики и паразитологии

650056, г. Кемерово, ул. Ворошилова, д. 22а

Alexey N. Volkov, PhD, Associate Professor, Department of Biology,Genetics and Parasitology

22a, Voroshilova Street, Kemerovo, 650056

volkov_alex@rambler.ruhttps://orcid.org/0000-0003-2171-702XРытенковаО. И.RytenkovaO. I.

Рытенкова Оксана Ивановна, врач-лабораторный генетикмедико-генетической лаборатории

650066, г. Кемерово, пр. Октябрьский, д. 22

Oksana I. Rytenkova, MD, Geneticist, Medical Genetics Laboratory

22, Oktyabrskiy Prospekt, Kemerovo, 650066

ФГБОУ ВО «Кемеровский государственный медицинский университет» Министерства здравоохранения Российской ФедерацииРоссияKemerovo State Medical UniversityRussian FederationГАУЗ «Кузбасская областная клиническая больница им. С.В. Беляева»РоссияBelyaev Kuzbass Regional Clinical HospitalRussian Federation20223103202271102112Copyright © Волков А.Н., Рытенкова О.И., 20222022Волков А.Н., Рытенкова О.И.Volkov А.N., Rytenkova O.I.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://fcm.kemsmu.ru/jour/article/view/521

В предлагаемой лекции анализируется механизм формирования хромосомных мутаций и их разнообразие. Рассматриваются возможные медицинские последствия наличия сбалансированных и несбалансированных хромосомных перестроек. Вниманию читателя предлагаются синдромы, связанные с повреждением хромосом. Описание иллюстрируется реальными изображениями кариотипов пациентов. Демонстрируются примеры записи кариотипов с хромосомными аномалиями в соответствии с международной номенклатурой. Лекция ориентирована, прежде всего, на студентов медико-биологических специальностей, молодых специалистов, планирующих использовать в своей практической деятельности цитогенетические методы исследований, и врачей, сталкивающихся с необходимостью анализировать и интерпретировать результаты цитогенетического анализа. Для усвоения обсуждаемого материала рекомендуется ознакомление с предыдущей лекцией цикла.

Mutations represent a natural mechanism for adaptation of species to changing environmental conditions. Chromosomal rearrangements play a pivotal role in the evolution, as evidenced by the comparison of human and non-human primate karyotypes, and have diverse clinical consequences. In most cases chromosomal aberrations are compatible with life, yet their carriers might show a variety of mental and physiological abnormalities and malformations. Albeit chromosomal rearrangements often do not affect the health and reproductive ability, offspring of their carriers still have a high risk of inherited disorders. Most notably, chromosomal aberrations strongly correlate with cancer risk. When unbalanced, chromosomal abnormalities are associated with reduced life expectancy and reproductive potential. In this lecture, we analyse the mechanisms of chromosomal aberrations, review their diversity, and describe significant clinical consequences such as inherited syndromes which are illustrated with images of patients' karyotypes. The lecture is primarily aimed at biomedical students, researchers and physicians who often have an unmet need to analyse and interpret the results of cytogenetic analyses.

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