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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">10.25557/2073-7998.2025.09.45-49</article-id><article-id custom-type="elpub" pub-id-type="custom">medgen-3172</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>КРАТКОЕ СООБЩЕНИЕ</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>Криптические гетероплоидии в культивированных лейомиомах матки  с аномальным кариотипом</article-title><trans-title-group xml:lang="en"><trans-title>Hidden heteroploidies in cultured uterine leiomyomas with an abnormal karyotype</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>Кольцова</surname><given-names>А. С.</given-names></name><name name-style="western" xml:lang="en"><surname>Koltsova</surname><given-names>A. S.</given-names></name></name-alternatives><bio xml:lang="ru"><p>199034, г. Санкт-Петербург, Менделеевская линия, д.3 </p></bio><bio xml:lang="en"><p>3, Mendeleevskaya line, Saint Petersburg, 199034</p></bio><email xlink:type="simple">rosenrot15@yandex.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>Ефимова</surname><given-names>О. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Efimova</surname><given-names>O. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>199034, г. Санкт-Петербург, Менделеевская линия, д.3 </p></bio><bio xml:lang="en"><p>3, Mendeleevskaya line, Saint Petersburg, 199034</p></bio><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Ярмолинская</surname><given-names>М. И.</given-names></name><name name-style="western" xml:lang="en"><surname>Yarmolinskaya</surname><given-names>M. I.</given-names></name></name-alternatives><bio xml:lang="ru"><p>199034, г. Санкт-Петербург, Менделеевская линия, д.3 </p></bio><bio xml:lang="en"><p>3, Mendeleevskaya line, Saint Petersburg, 199034</p></bio><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Пендина</surname><given-names>А. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Pendina</surname><given-names>A. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>199034, г. Санкт-Петербург, Менделеевская линия, д.3 </p></bio><bio xml:lang="en"><p>3, Mendeleevskaya line, Saint Petersburg, 199034</p></bio><xref ref-type="aff" rid="aff-1"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>ФГБНУ Научно–исследовательский институт акушерства, гинекологии и репродуктологии имени Д.О.Отта</institution><country>Россия</country></aff><aff xml:lang="en"><institution>The Research Institute of Obstetrics, Gynecology and Reproductology named after D.O.Ott</institution><country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2025</year></pub-date><pub-date pub-type="epub"><day>13</day><month>11</month><year>2025</year></pub-date><volume>24</volume><issue>9</issue><fpage>45</fpage><lpage>49</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Кольцова А.С., Ефимова О.А., Ярмолинская М.И., Пендина А.А., 2025</copyright-statement><copyright-year>2025</copyright-year><copyright-holder xml:lang="ru">Кольцова А.С., Ефимова О.А., Ярмолинская М.И., Пендина А.А.</copyright-holder><copyright-holder xml:lang="en">Koltsova A.S., Efimova O.A., Yarmolinskaya M.I., Pendina A.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/3172">https://www.medgen-journal.ru/jour/article/view/3172</self-uri><abstract><sec><title>Актуальность</title><p>Актуальность. Цитогенетические исследования выявляют хромосомные аномалии примерно в 40% лейомиом матки. При этом лейомиомы с нормальным кариотипом характеризуются скрытым мозаицизмом по числовым аномалиям хромосом 7 и 16, кратным и некратным гаплоидному набору (гетероплоидиями).</p></sec><sec><title>Цель</title><p>Цель: поиск клеток с аномалиями числа хромосом 7, 16 и Х в лейомиомах с аномальным кариотипом, культивированных в среде с добавлением эстрогена и прогестерона и без таковых.</p></sec><sec><title>Методы</title><p>Методы. Частоту и спектр гетероплоидий в образцах 9 лейомиом с аномальным кариотипом, культивированных в среде без гормонов и с добавлением эстрогена и прогестерона, определяли методом FISH на интерфазных ядрах с ДНК-зондами к локусам DXZ1, D7Z1, D16Z3 хромосом X, 7 и 16, соответственно.</p></sec><sec><title>Результаты</title><p>Результаты. Во всех культурах лейомиом выявлены малочисленные популяции тетраплоидных клеток и клеток с моносомиями по хромосомам X, 7 и 16. Суммарная частота гетероплоидий варьировала от 0,8 до 9,1%, с преобладанием тетраплоидных клеток над моносомными, а также моносомий по хромосоме 7 над моносомиями по хромосомам 16 и X. Спектр и частота гетероплоидий не различались между образцами лейомиом, культивированными с добавлением гормонов и без таковых.</p></sec><sec><title>Выводы</title><p>Выводы. Малочисленные популяции тетраплоидных и моносомных клеток характерны для культивированных лейомиом не только с нормальным, но и с аномальным кариотипом. При этом добавление в культуральную среду эстрогена и прогестерона не влияет на частоту и спектр гетероплоидий.</p></sec></abstract><trans-abstract xml:lang="en"><sec><title>Background</title><p>Background. Conventional cytogenetic studies reveal chromosomal abnormalities in approximately 40% of uterine leiomyomas (ULs). ULs with a normal karyotype comprise minor cell subpopulations with numerical abnormalities of chromosomes 7 and 16 (so-called heteroploidies). Aim: to screen ULs with an abnormal karyotype, cultured in a medium with and without estrogen and progesterone supplementation, for cells with numerical abnormalities of chromosomes 7, 16 and X.</p></sec><sec><title>Methods</title><p>Methods. The frequency and the spectrum of heteroploidies in nine ULs with an abnormal karyotype, cultured in a medium with and without supplementation of estrogen and progesterone, were studied by interphase FISH using DNA probes to DXZ1, D7Z1, D16Z3 loci of chromosomes X, 7 and 16, respectively.</p></sec><sec><title>Results</title><p>Results. Small populations of tetraploid cells and cells with monosomies X, 7 or 16 were detected in all UL cultures. The total frequency of heteroploid cells in UL cultures varied from 0.8 to 9.1%; tetraploid cells were predominant over monosomic cells, and cells with monosomy 7 – over monosomies 16 or X. The spectrum and the frequency of heteroploidies did not differ between UL samples cultured with and without hormones.</p></sec><sec><title>Conclusions</title><p>Conclusions. Small populations of tetraploid and monosomic cells are characteristic of cultured ULs not only with normal but also with an abnormal karyotype. The addition of estrogen and progesterone to the culture medium does not affect the frequency and the spectrum of heteroploidies.</p></sec></trans-abstract><kwd-group xml:lang="ru"><kwd>лейомиома матки</kwd><kwd>аномальный кариотип</kwd><kwd>гетероплоидии</kwd><kwd>тетраплоидии</kwd><kwd>моносомии</kwd><kwd>клеточная культура</kwd><kwd>стероидные половые гормоны</kwd><kwd>эстроген</kwd><kwd>прогестерон</kwd></kwd-group><kwd-group xml:lang="en"><kwd>uterine leiomyoma</kwd><kwd>abnormal karyotype</kwd><kwd>heteroploidy</kwd><kwd>tetraploidy</kwd><kwd>monosomy</kwd><kwd>cell culture</kwd><kwd>sex steroid hormones</kwd><kwd>estrogen</kwd><kwd>progesterone</kwd></kwd-group><funding-group><funding-statement xml:lang="ru">Работа выполнена в рамках ФНИ №1024032800068-4-3.2.2</funding-statement><funding-statement xml:lang="en">The work was carried out within the framework of fundamental scientific research No. 1024032800068-4-3.2.2.</funding-statement></funding-group></article-meta></front><back><ref-list><title>References</title><ref id="cit1"><label>1</label><citation-alternatives><mixed-citation xml:lang="ru">Day Baird D., Dunson D.B., Hill M.C., et al. 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