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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">10.25557/2073-7998.2020.07.17-18</article-id><article-id custom-type="elpub" pub-id-type="custom">medgen-1428</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>Характеристика генетической гетерогенности популяций через груз наследственной патологии</article-title><trans-title-group xml:lang="en"><trans-title>Characterization of the genetic heterogeneity of populations through the load of hereditary pathology</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>Ельчинова</surname><given-names>Г. И.</given-names></name><name name-style="western" xml:lang="en"><surname>El’Chinova</surname><given-names>G. I.</given-names></name></name-alternatives><email xlink:type="simple">elchinova@med-gen.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>Кадышев</surname><given-names>В. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Kadyshev</surname><given-names>V. V.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.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>Зинченко</surname><given-names>Р. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Zinchenko</surname><given-names>R. A.</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>Медико-генетический научный центр им. академика Н.П.Бочкова</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Research Centre for Medical Genetics</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-2"><aff xml:lang="ru"><institution>Медико-генетический научный центр им. академика Н.П.Бочкова; Национальный научно-исследовательский институт общественного здоровья имени Н.А. Семашко</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Research Centre for Medical Genetics</institution><country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2020</year></pub-date><pub-date pub-type="epub"><day>13</day><month>11</month><year>2020</year></pub-date><volume>19</volume><issue>7</issue><fpage>17</fpage><lpage>18</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Ельчинова Г.И., Кадышев В.В., Зинченко Р.А., 2020</copyright-statement><copyright-year>2020</copyright-year><copyright-holder xml:lang="ru">Ельчинова Г.И., Кадышев В.В., Зинченко Р.А.</copyright-holder><copyright-holder xml:lang="en">El’Chinova G.I., Kadyshev V.V., Zinchenko R.A.</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/1428">https://www.medgen-journal.ru/jour/article/view/1428</self-uri><abstract><p>На основании архивных данных лаборатории генетической эпидемиологии ФГБНУ «МГНЦ» по 11 российским популяциям предложен метод количественной оценки генетической гетерогенности популяций по грузу аутосомно-доминантной и аутосомно-рецессивной наследственной патологии. Показано, что наименьшей гетерогенностью характеризуется Краснодарский край, наибольшей - население Татарстана.</p></abstract><trans-abstract xml:lang="en"><p>On the basis of archival data from the laboratory of genetic epidemiology of the RCMG for 11 Russian populations, a method for quantifying the genetic heterogeneity of populations based on the load of autosomal dominant and autosomal recessive hereditary pathology is proposed. It is shown that the Krasnodar region is characterized by the least heterogeneity, and the population of Tatarstan is the largest.</p></trans-abstract><kwd-group xml:lang="ru"><kwd>популяция</kwd><kwd>груз наследственной патологии</kwd><kwd>генетическая эпидемиология</kwd><kwd>гетерогенность</kwd></kwd-group><kwd-group xml:lang="en"><kwd>population</kwd><kwd>load of hereditary pathology</kwd><kwd>genetic epidemiology</kwd><kwd>heterogeneity</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>
