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<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">medgen</journal-id><journal-title-group><journal-title xml:lang="ru">Медицинская генетика</journal-title><trans-title-group xml:lang="en"><trans-title>Medical Genetics</trans-title></trans-title-group></journal-title-group><issn pub-type="ppub">2073-7998</issn><publisher><publisher-name>Publishing House «Genius Media» LLC</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.25557/2073-7998.2020.04.80-81</article-id><article-id custom-type="elpub" pub-id-type="custom">medgen-1165</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>КРАТКИЕ СООБЩЕНИЯ</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>BRIEF REPORT</subject></subj-group></article-categories><title-group><article-title>Молекулярно-генетическое исследование рассеянного склероза</article-title><trans-title-group xml:lang="en"><trans-title>Molecular genetic analysis of multiple sclerosis</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Тимашева</surname><given-names>Я. Р.</given-names></name><name name-style="western" xml:lang="en"><surname>Timasheva</surname><given-names>Y. R.</given-names></name></name-alternatives><email xlink:type="simple">ianina_t@mail.ru</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Насибуллин</surname><given-names>Т. Р.</given-names></name><name name-style="western" xml:lang="en"><surname>Nasibullin</surname><given-names>T. R.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-2"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Туктарова</surname><given-names>И. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Tuktarova</surname><given-names>I. A.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-2"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Эрдман</surname><given-names>В. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Erdman</surname><given-names>V. V.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-2"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Галиуллин</surname><given-names>Т. Р.</given-names></name><name name-style="western" xml:lang="en"><surname>Galiullin</surname><given-names>T. R.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-3"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Заплахова</surname><given-names>О. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Zaplakhova</surname><given-names>O. V.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-3"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Бахтиярова</surname><given-names>К. З.</given-names></name><name name-style="western" xml:lang="en"><surname>Bakhtiiarova</surname><given-names>K. Z.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-4"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Мустафина</surname><given-names>О. Е.</given-names></name><name name-style="western" xml:lang="en"><surname>Mustafina</surname><given-names>O. E.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-2"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>Институт биохимии и генетики - обособленное структурное подразделение ФГБНУ Уфимского федерального исследовательского центра Российской академии наук;  Башкирский государственный медицинский университет</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Institute of Biochemistry and Genetics - Subdivision of the Ufa Federal Research Centre of the Russian Academy of Sciences</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-2"><aff xml:lang="ru"><institution>Институт биохимии и генетики - обособленное структурное подразделение ФГБНУ Уфимского федерального исследовательского центра Российской академии наук</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Institute of Biochemistry and Genetics - Subdivision of the Ufa Federal Research Centre of the Russian Academy of Sciences</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-3"><aff xml:lang="ru"><institution>Республиканская клиническая больница имени Г.Г. Куватова</institution><country>Россия</country></aff><aff xml:lang="en"><institution>G.G. Kuvatov Republic Clinical Hospital</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-4"><aff xml:lang="ru"><institution>Башкирский государственный медицинский университет</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Bashkir State Medical University</institution><country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2020</year></pub-date><pub-date pub-type="epub"><day>15</day><month>09</month><year>2020</year></pub-date><volume>19</volume><issue>4</issue><fpage>80</fpage><lpage>81</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Тимашева Я.Р., Насибуллин Т.Р., Туктарова И.А., Эрдман В.В., Галиуллин Т.Р., Заплахова О.В., Бахтиярова К.З., Мустафина О.Е., 2020</copyright-statement><copyright-year>2020</copyright-year><copyright-holder xml:lang="ru">Тимашева Я.Р., Насибуллин Т.Р., Туктарова И.А., Эрдман В.В., Галиуллин Т.Р., Заплахова О.В., Бахтиярова К.З., Мустафина О.Е.</copyright-holder><copyright-holder xml:lang="en">Timasheva Y.R., Nasibullin T.R., Tuktarova I.A., Erdman V.V., Galiullin T.R., Zaplakhova O.V., Bakhtiiarova K.Z., Mustafina O.E.</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.medgen-journal.ru/jour/article/view/1165">https://www.medgen-journal.ru/jour/article/view/1165</self-uri><abstract><p>Рассеянный склероз - это хроническое воспалительное демиелинизирующее заболевание центральной нервной системы многофакторной природы. Цель настоящего исследования состояла в проведении анализа ассоциаций с заболеванием полиморфных маркеров в генах, продукты которых предположительно участвуют в патогенезе заболевания, а также идентифицированных в результате проведения полногеномных исследований, в популяциях башкир, русских и татар, проживающих в Республике Башкортостан. В результате проведенного исследования нами получены данные, подтверждающие ассоциацию с рассеянным склерозом генов, продукты которых участвуют в развитии аутоиммунного воспаления центральной нервной системы.</p></abstract><trans-abstract xml:lang="en"><p>Multiple sclerosis is a chronic inflammatory demyelinating disorder of central nervous system of multifactorial origin. Genome-wide association studies identified 700 polymorphic genetic variants associated with multiple sclerosis. The aim of the current study was to analyse associations of the polymorphic markers in genes involved in the pathogenesis of the disease and those identified by genome-wide association studies in the populations of Bashkirs, Russians, and Tatars from the Republic of Bashkortostan (Russian Federation). The study group was comprised of 644 patients with multiple sclerosis and 1408 control group individuals. Genotyping of 35 polymorphic genetic markers was performed using allele-specific PCR and PCR followed by restriction fragment length polymorphism analysis. The data obtained in our study confirm the association with multiple sclerosis of the genes involved in the development of autoimmune inflammation in central nervous system.</p></trans-abstract><kwd-group xml:lang="ru"><kwd>рассеянный склероз</kwd><kwd>генетический полиморфизм</kwd><kwd>анализ ассоциаций</kwd><kwd>полногеномные ассоциативные исследования</kwd><kwd>multiple sclerosis</kwd><kwd>gene polymorphism</kwd><kwd>analysis of association</kwd><kwd>genome-wide association studies</kwd></kwd-group></article-meta></front><back><ref-list><title>References</title></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>
