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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">vavilov</journal-id><journal-title-group><journal-title xml:lang="ru">Вавиловский журнал генетики и селекции</journal-title><trans-title-group xml:lang="en"><trans-title>Vavilov Journal of Genetics and Breeding</trans-title></trans-title-group></journal-title-group><issn pub-type="epub">2500-3259</issn><publisher><publisher-name>Institute of Cytology and Genetics of Siberian Branch of the RAS</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.18699/VJ17.320</article-id><article-id custom-type="elpub" pub-id-type="custom">vavilov-1275</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>ЭКОЛОГИЧЕСКАЯ И ПОПУЛЯЦИОННАЯ ГЕНЕТИКА</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>ECOLOGICAL AND POPULATION GENETICS</subject></subj-group></article-categories><title-group><article-title>Полиморфизм гена трегалазы (TREH)  у коренного населения Сибири</article-title><trans-title-group xml:lang="en"><trans-title>Polymorphism of the trehalase gene (TREH) in native populations of Siberia</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>Малярчук</surname><given-names>Б. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Malyarchuk</surname><given-names>B. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Магадан.</p></bio><bio xml:lang="en"><p>Magadan.</p></bio><email xlink:type="simple">malyarchuk@ibpn.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>Деренко</surname><given-names>М. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Derenko</surname><given-names>M. V.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Магадан.</p></bio><bio xml:lang="en"><p>Magadan.</p></bio><xref ref-type="aff" rid="aff-1"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru">Институт биологических проблем Севера Дальневосточного отделения Российской академии наук.<country>Россия</country></aff><aff xml:lang="en">Institute of Biological Problems of the North FEB RAS.<country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2017</year></pub-date><pub-date pub-type="epub"><day>21</day><month>01</month><year>2018</year></pub-date><volume>21</volume><issue>8</issue><fpage>964</fpage><lpage>968</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Малярчук Б.А., Деренко М.В., 2018</copyright-statement><copyright-year>2018</copyright-year><copyright-holder xml:lang="ru">Малярчук Б.А., Деренко М.В.</copyright-holder><copyright-holder xml:lang="en">Malyarchuk B.A., Derenko M.V.</copyright-holder><license 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://vavilov.elpub.ru/jour/article/view/1275">https://vavilov.elpub.ru/jour/article/view/1275</self-uri><abstract><p>Дефицит некоторых углеводов в традиционной диете коренного населения Крайнего Севера способствовал высокой распространенности в популяциях неактивных вариантов генов, кодиру ющих, например, амилазу (ген AMY2A) и сахаразу­изомальтазу (ген SI). Одним из малоусваиваемых коренными жителями Крайнего Севера дисахаридов является трегалоза, которая содержится в водорослях, высших грибах, лишайниках и некоторых высших растениях. В настоящей работе исследован полиморфизм гена TREH в популяциях Сибири. Этот ген кодирует трегалазу – фермент, расщепляющий трегалозу. Анализ экзомного полиморфизма показал наличие в популяциях семи гаплотипов гена TREH. Три из них определяются вариантом rs2276064­А, который ассоциируется с самой низкой активностью трегалазы. Максимальная частота гаплотипов этой группы наблюдается в выборках коренного населения Северо­Восточной Азии (около 60 %), в популяциях других регионов Сибири ее частота составляет 30–40 %. Таким образом, высокая частота варианта rs2276064­А, ассоциирующегося с мало­активной трегалазой, объясняет, почему коренные северяне избегают пищи, содержащей трегалозу. Предполагается, что увеличению частоты этого варианта в популяциях Северо­Востока Азии мог способствовать дрейф генов, действующий в популяциях малой эффективной численности. Однако не исключено, что искусственно вызванный дефицит трегалозы в пище коренных народов Крайнего Севера (вследствие традиции отказа от грибов) также мог стать причиной увеличения частоты малоактивной трегалазы при условии, что эта традиция существует у жителей Крайнего Севера на протяжении многих поколений.</p></abstract><trans-abstract xml:lang="en"><p>Deficiency of some carbohydrates in the traditional diet of native populations of the Far North contributed to a high population prevalence of inactive variants of genes encoding, for example, amylase (AMY2A gene) and sucrase­isomaltase (SI gene). Trehalose, which is found in algae, higher fungi, lichens and some higher plants, is another of the disaccharides, poorly digested by native people of the Far North. Here, in native populations of Siberia, we studied the polymorphism of the TREH gene, which encodes trehalase, an enzyme that cleaves trehalose. The analysis of exome polymorphism showed the presence of seven haplotypes of the TREH gene in the population. Three of them are determined by the variant rs2276064­A, which is associated with the lowest activity of trehalase. The maximum frequency of this group of haplotypes is observed in the samples of native populations of Northeast Asia (about 60 %), in the remaining samples of the Siberian populations, its frequency is 30–40 %. Thus, the high frequency of variant rs2276064­A, associated with a low­activity trehalase, explains why Northern aboriginal peoples avoid food containing trehalose. It is assumed that the increase in the frequency of this variant in the populations of Northeast Asia can have been facilitated by gene drift acting in populations of a small effective size. However, it is possible that artificially induced trehalose deficiency in the traditional diet of the indigenous peoples of the Far North (due to the tradition of rejecting fungi) could also cause an increase in the frequency of low­activity trehalase, provided that this tradition has been existing among Northern aboriginal peoples for many generations.</p></trans-abstract><kwd-group xml:lang="ru"><kwd>ген TREH</kwd><kwd>экзом</kwd><kwd>однонуклеотидные полиморфизмы</kwd><kwd>популяции человека</kwd><kwd>Сибирь</kwd><kwd>адаптивная эволюция</kwd></kwd-group><kwd-group xml:lang="en"><kwd>gene TREH</kwd><kwd>exome</kwd><kwd>single nucleotide polymorphisms</kwd><kwd>human populations</kwd><kwd>Siberia</kwd><kwd>adaptive evolution</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">Adzhubei I., Jordan D.M., Sunyaev S.R. 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