<?xml version="1.0" encoding="UTF-8"?>
<!DOCTYPE article PUBLIC "-//NLM//DTD JATS (Z39.96) Journal Publishing DTD v1.3 20210610//EN" "JATS-journalpublishing1-3.dtd">
<article article-type="research-article" dtd-version="1.3" xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" xml:lang="ru"><front><journal-meta><journal-id journal-id-type="publisher-id">bmjour</journal-id><journal-title-group><journal-title xml:lang="ru">Байкальский медицинский журнал</journal-title><trans-title-group xml:lang="en"><trans-title>Baikal Medical Journal</trans-title></trans-title-group></journal-title-group><issn pub-type="epub">2949-0715</issn><publisher><publisher-name>Irkutsk State Medical University</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.57256/2949-0715-2023-1-60-71</article-id><article-id custom-type="elpub" pub-id-type="custom">bmjour-45</article-id><article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="ru"><subject>Лекции для студентов, ординаторов и аспирантов</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>Lectures for students, residents and postgraduates</subject></subj-group></article-categories><title-group><article-title>МЕТОДЫ СОВРЕМЕННОЙ ГЕНЕТИКИ</article-title><trans-title-group xml:lang="en"><trans-title>METHODS OF MODERN GENETICS</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0001-7525-2657</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Ткачук</surname><given-names>Елена Анатольевна</given-names></name><name name-style="western" xml:lang="en"><surname>Tkachuk</surname><given-names>Elena Anatolyevna</given-names></name></name-alternatives><email xlink:type="simple">zdorowie38@gmail.com</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-7530-0716</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Семинский</surname><given-names>Игорь Жанович</given-names></name><name name-style="western" xml:lang="en"><surname>Seminsky</surname><given-names>Igor Zhanovich</given-names></name></name-alternatives><email xlink:type="simple">i.seminskiy.2016@gmail.com</email><xref ref-type="aff" rid="aff-2"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>д.м.н., доцент, профессор кафедры патологической физиологии и клинической лабораторной диагностики ФГБОУ ВО ИГМУ Минздрава России</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Doctor of Medical Sciences, Associate Professor, Professor of the Department of Pathological Physiology and Clinical Laboratory Diagnostics of the Federal State Budgetary Educational Institution of Higher Education of the State Medical University of the Ministry of Health of Russia.</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-2"><aff xml:lang="ru"><institution>д.м.н., профессор, проректор по научной работе, заведующий кафедрой патологической физиологии и клинической лабораторной диагностики ФГБОУ ВО ИГМУ Минздрава России</institution><country>Russian Federation</country></aff><aff xml:lang="en"><institution>Doctor of Medical Sciences, Professor, vice-rector for scientific work, Head of the Department of Pathological Physiology and Clinical Laboratory Diagnostics of the Federal State Budgetary Educational Institution of Higher Education of the State Medical University of the Ministry of Health of Russia</institution><country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2023</year></pub-date><pub-date pub-type="epub"><day>10</day><month>03</month><year>2023</year></pub-date><volume>2</volume><issue>1</issue><fpage>60</fpage><lpage>71</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Ткачук Е.А., Семинский И.Ж., 2023</copyright-statement><copyright-year>2023</copyright-year><copyright-holder xml:lang="ru">Ткачук Е.А., Семинский И.Ж.</copyright-holder><copyright-holder xml:lang="en">Tkachuk E.A., Seminsky I.Z.</copyright-holder><license xml:lang="ru" license-type="creative-commons-attribution" xlink:href="https://creativecommons.org/licenses/by/4.0/" xlink:type="simple"><license-p>Данная работа распространяется под лицензией Creative Commons Attribution 4.0.</license-p></license><license xml:lang="en" license-type="creative-commons-attribution" xlink:href="https://creativecommons.org/licenses/by/4.0/" xlink:type="simple"><license-p>This work is licensed under a Creative Commons Attribution 4.0 License.</license-p></license></permissions><self-uri xlink:href="https://www.bmjour.ru/jour/article/view/45">https://www.bmjour.ru/jour/article/view/45</self-uri><abstract><p>Современная генетика использует целый ряд методов, которые являются ее инструментами в познании сущности наследственной патологии человека. Методы генетики, как правило, используются совместно. Понимание возможностей методов изучения генетики человека является залогом успешной диагностики наследственных заболеваний.</p><p>В лекции представлены методы изучения современной генетики. Показано, что клиническая генетика оперирует целым рядом методов, которые позволяют успешно решать поставленные перед ней задачи. К методам современной генетики относятся: генеалогический, клинический, цитогенетический, молекулярно-цитогенетический, молекулярно-генетический, популяционный, близнецовый, дерматоглифический, биоинформационный, биохимический, параклинический, биоинженерный методы и метод моделирования. Все методы имеют прикладное значение и помогают поставить диагноз, и предсказать развитие заболевания.</p><p>Методы в  генетике используют в диагностических схемах при постановке диагноза наследственного заболевания. В клинической практике, как правило, вначале применяют методы, имеющие наименьшую стоимость, а затем прибегают к более точным, современным, но и дорогостоящим методикам. Это позволяет установить диагноз даже самого редкого наследственного заболевания.</p></abstract><trans-abstract xml:lang="en"><p>Modern genetics uses a number of methods that are its tools in understanding the essence of human hereditary pathology. Genetic methods are usually used together. Understanding the possibilities of methods for studying human genetics is the key to successful diagnosis of hereditary diseases. The lecture presents methods for studying modern genetics. It is shown that clinical genetics operates with a number of methods that allow successfully solving the tasks assigned to it. The methods of modern genetics include: genealogical, clinical, cytogenetic, molecular cytogenetic, molecular genetic, population, twin, dermatoglyphic, bioinformatic, biochemical, paraclinical, bioengineering methods and modeling method. All methods are of practical importance and help to make a diagnosis and predict the development of the disease. Methods in genetics are used in diagnostic schemes when making a diagnosis of a hereditary disease. In clinical practice, as a rule, methods with the lowest cost are used first, and then more accurate, modern, but also expensive methods are resorted to. This allows you to establish the diagnosis of even the rarest hereditary disease.</p></trans-abstract><kwd-group xml:lang="ru"><kwd>генетика</kwd><kwd>методы генетики</kwd><kwd>молекулярно-генетическая диагностика</kwd><kwd>генотерапия</kwd></kwd-group><kwd-group xml:lang="en"><kwd>genetics</kwd><kwd>genetic methods</kwd><kwd>molecular genetic diagnostics</kwd><kwd>gene therapy.</kwd></kwd-group></article-meta></front><back><ref-list><title>References</title><ref id="cit1"><label>1</label><citation-alternatives><mixed-citation xml:lang="ru">Медицинская генетика: национальное руководство. Под ред. Гинтер Е.К., Пузырева В.П., Куцева С.И. Москва:ГЭОТАР-Медиа;2022:896 [Medical genetics: national guidelines. Ed. Ginter E.K., Puzyrev V.P., Kutsev S.I. Moscow:GOETAR-Media;2022:896 (In Russian)]. https://doi.org/10/33029/9704-6307-9-GEN-2022-1-896.</mixed-citation><mixed-citation xml:lang="en">Medical genetics: national guidelines. Ed. Ginter E.K., Puzyrev V.P., Kutsev S.I. Moscow:GOETAR-Media;2022:896 (In Russian). https://doi.org/10/33029/9704-6307-9-GEN-2022-1-896.</mixed-citation></citation-alternatives></ref><ref id="cit2"><label>2</label><citation-alternatives><mixed-citation xml:lang="ru">Клиническая генетика: учебник. Под ред. Бочкова Н. П., Пузырева В.П., Смирнихина С.А. М.:ГЭОТАР-Медиа;2022:592 [Clinical genetics: textbook. Ed. Bochkov N.P., Puzyrev V.P., Smirnikhina S.A. M.:GEOTAR-Media;2022:592 (In Russian)]</mixed-citation><mixed-citation xml:lang="en">Clinical genetics: textbook. Ed. Bochkov N.P., Puzyrev V.P., Smirnikhina S.A. M.:GEOTAR-Media;2022:592 (In Russian)</mixed-citation></citation-alternatives></ref><ref id="cit3"><label>3</label><citation-alternatives><mixed-citation xml:lang="ru">Мутовин Г.Р. Клиническая генетика. Геномика и протеомика наследственной патологии : учебное пособие. М.:ГЭОТАР-Медиа;2010:832 [Mutovin G.R. Clinical genetics. Genomics and proteomics of hereditary pathology: a textbook. M.:GEOTAR-Media;2010:832 (In Russian)]</mixed-citation><mixed-citation xml:lang="en">Mutovin G.R. Clinical genetics. Genomics and proteomics of hereditary pathology: a textbook. M.:GEOTAR-Media;2010:832 (In Russian)</mixed-citation></citation-alternatives></ref><ref id="cit4"><label>4</label><citation-alternatives><mixed-citation xml:lang="ru">Юров И.Ю., Ворсанова С.Г., Воинова В.Ю., Чурносов М.И., Юров Ю.Б. Цитогенетические, молекулярные и клинические основы генетически обусловленных болезней: учебное пособие. М.:Издательский дом Академии Естествознания;2019:164 [Yurov I.Yu., Vorsanova S.G., Voinova V.Yu., Churnosov M.I., Yurov Yu.B. Cytogenetic, molecular and clinical bases of genetically determined diseases: textbook. M.:Publishing House of the Academy of Natural Sciences;2019:164 (In Russian)] https://doi.org/10.17513/np.351</mixed-citation><mixed-citation xml:lang="en">Yurov I.Yu., Vorsanova S.G., Voinova V.Yu., Churnosov M.I., Yurov Yu.B. Cytogenetic, molecular and clinical bases of genetically determined diseases: textbook. M.:Publishing House of the Academy of Natural Sciences;2019:164 (In Russian). https://doi.org/10.17513/np.351</mixed-citation></citation-alternatives></ref><ref id="cit5"><label>5</label><citation-alternatives><mixed-citation xml:lang="ru">Юров И.Ю., Воинова В.Ю., Ворсанова С.Г., Юров Ю.Б. Молекулярные и клинические основы наследственных болезней: учебное пособие. М.:Издательский дом Академии Естествознания;2018:100 [Yurov I.Yu., Voinova V.Yu., Vorsanova S.G., Yurov Yu.B. Molecular and clinical bases of hereditary diseases: a textbook. M.:Publishing House of the Academy of Natural Sciences;2018:100 (In Russian)]</mixed-citation><mixed-citation xml:lang="en">Yurov I.Yu., Voinova V.Yu., Vorsanova S.G., Yurov Yu.B. Molecular and clinical bases of hereditary diseases: a textbook. M.:Publishing House of the Academy of Natural Sciences;2018:100 (In Russian)</mixed-citation></citation-alternatives></ref><ref id="cit6"><label>6</label><citation-alternatives><mixed-citation xml:lang="ru">Ткачук Е.А. Использование синдромального подхода к диагностике аутизма у детей. Медицинский Совет. 2022;(12):200-204 [Tkachuk E.A. Using a syndromic approach to the diagnosis of autism in children. Medical advice. 2022;(12):200-204 (In Russian)]. https://doi.org/10.21518/2079-701X-2022-16-12-200-204</mixed-citation><mixed-citation xml:lang="en">Tkachuk E.A. Using a syndromic approach to the diagnosis of autism in children. Medical advice. 2022;(12):200-204 (In Russian). https://doi.org/10.21518/2079-701X-2022-16-12-200-204</mixed-citation></citation-alternatives></ref><ref id="cit7"><label>7</label><citation-alternatives><mixed-citation xml:lang="ru">Barr M.L., Bertram E.G. A morphological distinction between neurones of the male and female, and the behaviour of the nucleolar satellite during accelerated nucleoprotein synthesis. Nature. 1949;163 (4148):676. https://doi.org/10.1038/163676a0</mixed-citation><mixed-citation xml:lang="en">Barr M.L., Bertram E.G. A morphological distinction between neurones of the male and female, and the behaviour of the nucleolar satellite during accelerated nucleoprotein synthesis. Nature. 1949;163 (4148):676. https://doi.org/10.1038/163676a0</mixed-citation></citation-alternatives></ref><ref id="cit8"><label>8</label><citation-alternatives><mixed-citation xml:lang="ru">Семинский И.Ж. Основы фармакогенетики. Сибирский медицинский журнал. 2002;6(35):97-100 [Seminsky I.Zh. Fundamentals of pharmacogenetics. Siberian Medical Journal. 2002;6(35):97-100 (In Russian)]. https://doi.org/10.57256/2949-0715-2002-6</mixed-citation><mixed-citation xml:lang="en">Seminsky I.Zh. Fundamentals of pharmacogenetics. Siberian Medical Journal. 2002;6(35):97-100 (In Russian). https://doi.org/10.57256/2949-0715-2002-6</mixed-citation></citation-alternatives></ref></ref-list><fn-group><fn fn-type="conflict"><p>The authors declare that there are no conflicts of interest present.</p></fn></fn-group></back></article>
