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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">agx</journal-id><journal-title-group><journal-title xml:lang="ru">Андрология и генитальная хирургия</journal-title><trans-title-group xml:lang="en"><trans-title>Andrology and Genital Surgery</trans-title></trans-title-group></journal-title-group><issn pub-type="ppub">2070-9781</issn><issn pub-type="epub">2412-8902</issn><publisher><publisher-name>MedINK Publishing House LLC</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.17650/2070-9781-2017-18-1-10-22</article-id><article-id custom-type="elpub" pub-id-type="custom">agx-220</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>ОБЗОРНЫЕ СТАТЬИ</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>REVIEW</subject></subj-group></article-categories><title-group><article-title>НОВЫЕ МОЛЕКУЛЯРНЫЕ ТЕХНОЛОГИИ В ДИАГНОСТИКЕ ГЕНЕТИЧЕСКИХ ПРИЧИН МУЖСКОГО БЕСПЛОДИЯ</article-title><trans-title-group xml:lang="en"><trans-title>NEW MOLECULAR TECHNOLOGIES IN GENETIC DIAGNOSIS OF MALE INFERTILITY</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>Черных</surname><given-names>В. Б.</given-names></name><name name-style="western" xml:lang="en"><surname>Chernykh</surname><given-names>V. B.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Контакты: Вячеслав Борисович Черных chernykh@med-gen.ru</p><p>115478 Москва, ул. Москворечье, 1</p></bio><bio xml:lang="en"/><email xlink:type="simple">chernykh@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>Яманди</surname><given-names>Т. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Yamandi</surname><given-names>T. A.</given-names></name></name-alternatives><bio xml:lang="ru"/><bio xml:lang="en"/><xref ref-type="aff" rid="aff-2"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Сафина</surname><given-names>Н. Ю.</given-names></name><name name-style="western" xml:lang="en"><surname>Safina</surname><given-names>N. Yu.</given-names></name></name-alternatives><bio xml:lang="ru"/><bio xml:lang="en"><p>20 Build. 1 Delegatskaya St., Moscow 127473</p></bio><xref ref-type="aff" rid="aff-2"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>ФГБНУ «Медико-генетический научный центр»;  &#13;
ФГБОУ ВО «Российский национальный исследовательский медицинский университет им. Н.И. Пирогова» Минздрава России</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Research Centre for Medical Genetics; &#13;
N.I. Pirogov Russian National Research Medical University</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-2"><aff xml:lang="ru"><institution>ФГБОУ ВО «Московский медико-стоматологический университет им. А.И. Евдокимова» Минздрава России</institution><country>Россия</country></aff><aff xml:lang="en"><institution>A.I. Evdokimov Moscow State University of Medicine and Dentistry</institution><country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2017</year></pub-date><pub-date pub-type="epub"><day>02</day><month>05</month><year>2017</year></pub-date><volume>18</volume><issue>1</issue><fpage>10</fpage><lpage>22</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Черных В.Б., Яманди Т.А., Сафина Н.Ю., 2017</copyright-statement><copyright-year>2017</copyright-year><copyright-holder xml:lang="ru">Черных В.Б., Яманди Т.А., Сафина Н.Ю.</copyright-holder><copyright-holder xml:lang="en">Chernykh V.B., Yamandi T.A., Safina N.Y.</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://agx.elpub.ru/jour/article/view/220">https://agx.elpub.ru/jour/article/view/220</self-uri><abstract><p>В последние годы стремительное развитие технологий в области молекулярной генетики и цитогенетики привело к значительному расширению возможностей исследования и диагностики различных изменений генома. В статье приведено краткое описание новых молекулярных технологий, результаты их использования в репродуктивной медицине, а также их перспективы в диагностике причин бесплодия у мужчин. </p></abstract><trans-abstract xml:lang="en"><p>In recent years, the accelerated development of technologies in the field of molecular genetics and cytogenetics has led to significant opportunities of the research and diagnosis of mutations and variations of the genome. This article provides a brief review of new molecular technology, also as the results of their use in reproductive medicine and their perspectives in the genetic diagnosis of male infertility. </p></trans-abstract><kwd-group xml:lang="ru"><kwd>мужское бесплодие</kwd><kwd>сперматогенез</kwd><kwd>азооспермия</kwd><kwd>олигозооспермия</kwd><kwd>нарушение формирования пола</kwd><kwd>секвенирование нового поколения</kwd><kwd>хромосомный микроматричный анализ</kwd><kwd>вариации числа копий</kwd><kwd>генные мутации</kwd><kwd>однонуклеотидный полиморфизм</kwd></kwd-group><kwd-group xml:lang="en"><kwd>male infertility</kwd><kwd>spermatogenesis</kwd><kwd>azoospermia</kwd><kwd>oligozoospermia</kwd><kwd>disorders of sex development</kwd><kwd>next-generation sequencing</kwd><kwd>array comparative genomic hybridization</kwd><kwd>copy number variation</kwd><kwd>gene mutations</kwd><kwd>single nucleotide polymorphism</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">Глинкина Ж.И., Леонов Б.В., Бахарев В.А., Лукин В.А. ПГД врожденных и наследственных заболеваний методом FISH в программе ЭКО и ПЭ. В кн.: Лечение женского и мужского бесплодия. Вспомогательные репродуктивные технологии. Под ред. В.И. Кулакова, Б.В. Леонова, Л.Н. Кузьмичева. М.: Медицинское информационное агентство, 2005. C. 162–197. [Glinkina Zh.I., Leonov B.V., Bakharev V.A., Lukin V.A. PGD of congenial and hereditary disorders using FISH in the IVF and ET program. In: Treatment of male and female infertility. Assisted reproductive technologies. Eds.V. I. Kulakov, B.V. Leonov, L.N. Kuzmichev. Moscow: Meditsinskoe informatsionnoe agentstvo, 2005. P. 162–197. (In Russ.)].</mixed-citation><mixed-citation xml:lang="en">Глинкина Ж.И., Леонов Б.В., Бахарев В.А., Лукин В.А. ПГД врожденных и наследственных заболеваний методом FISH в программе ЭКО и ПЭ. В кн.: Лечение женского и мужского бесплодия. Вспомогательные репродуктивные технологии. Под ред. В.И. Кулакова, Б.В. Леонова, Л.Н. Кузьмичева. М.: Медицинское информационное агентство, 2005. C. 162–197. [Glinkina Zh.I., Leonov B.V., Bakharev V.A., Lukin V.A. PGD of congenial and hereditary disorders using FISH in the IVF and ET program. In: Treatment of male and female infertility. Assisted reproductive technologies. Eds.V. I. Kulakov, B.V. Leonov, L.N. Kuzmichev. Moscow: Meditsinskoe informatsionnoe agentstvo, 2005. P. 162–197. (In Russ.)].</mixed-citation></citation-alternatives></ref><ref id="cit2"><label>2</label><citation-alternatives><mixed-citation xml:lang="ru">Andrology: Male Reproductive Health and Dysfunction. Eds by: E. Nieschlag, H.M. Behre, S. Nieschlag. 3rd ed. Berlin; Heidelberg: Springer Verlag, 2010. 629 p.</mixed-citation><mixed-citation xml:lang="en">Andrology: Male Reproductive Health and Dysfunction. Eds by: E. Nieschlag, H.M. Behre, S. Nieschlag. 3rd ed. Berlin; Heidelberg: Springer Verlag, 2010. 629 p.</mixed-citation></citation-alternatives></ref><ref id="cit3"><label>3</label><citation-alternatives><mixed-citation xml:lang="ru">Matzuk M.M., Lamb D.J. The biology of infertility: Research advances and clinical challenges. Nat Med 2008;14:1197–213.</mixed-citation><mixed-citation xml:lang="en">Matzuk M.M., Lamb D.J. The biology of infertility: Research advances and clinical challenges. Nat Med 2008;14:1197–213.</mixed-citation></citation-alternatives></ref><ref id="cit4"><label>4</label><citation-alternatives><mixed-citation xml:lang="ru">Курило Л.Ф., Андреева М.В., Коломиец О.Л. и др. Генетические синдромы с нарушениями развития органов половой системы. Андрология и генитальная хирургия 2013; (4):17–27. [Kurilo L.F., Andreeva M.V., Kolomiets O.L. et al. Genetically caused congenital anomalies of reproductive system. Andrologiya i genitalnaya khirurgiya = Andrology and Genital Surgery 2013; (4):17–27. (In Russ.)].</mixed-citation><mixed-citation xml:lang="en">Курило Л.Ф., Андреева М.В., Коломиец О.Л. и др. Генетические синдромы с нарушениями развития органов половой системы. Андрология и генитальная хирургия 2013; (4):17–27. [Kurilo L.F., Andreeva M.V., Kolomiets O.L. et al. Genetically caused congenital anomalies of reproductive system. Andrologiya i genitalnaya khirurgiya = Andrology and Genital Surgery 2013; (4):17–27. (In Russ.)].</mixed-citation></citation-alternatives></ref><ref id="cit5"><label>5</label><citation-alternatives><mixed-citation xml:lang="ru">Курило Л.Ф. Аномалии развития половой системы вследствие генных мутаций (Обзор литературы). Клиническая и экспериментальная морфология 2014; (2):58–65. [Kurilo L.F. Developmental anomalies of the reproductive system caused by gene mutations (literature review). Klinicheskaya i eksperimentalnaya morfologiya = Journal of Clinical and Experimental Morphology 2014;(2): 58–65. (In Russ.)].</mixed-citation><mixed-citation xml:lang="en">Курило Л.Ф. Аномалии развития половой системы вследствие генных мутаций (Обзор литературы). Клиническая и экспериментальная морфология 2014; (2):58–65. [Kurilo L.F. Developmental anomalies of the reproductive system caused by gene mutations (literature review). Klinicheskaya i eksperimentalnaya morfologiya = Journal of Clinical and Experimental Morphology 2014;(2): 58–65. (In Russ.)].</mixed-citation></citation-alternatives></ref><ref id="cit6"><label>6</label><citation-alternatives><mixed-citation xml:lang="ru">Курило Л.Ф. Хромосомные заболевания органов половой системы. Клиническая и экспериментальная морфология 2015; (1):48–59. [Kurilo L.F. Chromosomal diseases of the reproductive organs. Klinicheskaya i eksperimentalnaya morfologiya = Journal of Clinical and Experimental Morphology 2015;(1):48–59. (In Russ.)].</mixed-citation><mixed-citation xml:lang="en">Курило Л.Ф. Хромосомные заболевания органов половой системы. Клиническая и экспериментальная морфология 2015; (1):48–59. [Kurilo L.F. Chromosomal diseases of the reproductive organs. Klinicheskaya i eksperimentalnaya morfologiya = Journal of Clinical and Experimental Morphology 2015;(1):48–59. (In Russ.)].</mixed-citation></citation-alternatives></ref><ref id="cit7"><label>7</label><citation-alternatives><mixed-citation xml:lang="ru">Черных В.Б. Генетические факторы мужского бесплодия. Материалы. Всерос. науч.-практ. конф. «Молекуляр ные методы диагностики моногенных заболеваний: возможности и перспективы». Медицинская генетика 2006;2 (прилож.): 8–14. [Chernykh V.B. Genetic factors of male infertility. Proceedings of the All-Russian Scientific and Practical Conference “Molecular methods of diagnosis of monogenic disorders: Capabilities and possibilities.” Meditsinskaya genetika = Medical Genetics 2006;2 (appendix):8–14. (In Russ.)].</mixed-citation><mixed-citation xml:lang="en">Черных В.Б. Генетические факторы мужского бесплодия. Материалы. Всерос. науч.-практ. конф. «Молекуляр ные методы диагностики моногенных заболеваний: возможности и перспективы». Медицинская генетика 2006;2 (прилож.): 8–14. [Chernykh V.B. Genetic factors of male infertility. Proceedings of the All-Russian Scientific and Practical Conference “Molecular methods of diagnosis of monogenic disorders: Capabilities and possibilities.” Meditsinskaya genetika = Medical Genetics 2006;2 (appendix):8–14. (In Russ.)].</mixed-citation></citation-alternatives></ref><ref id="cit8"><label>8</label><citation-alternatives><mixed-citation xml:lang="ru">De Braekeleer M., Dao T.N. Cytogenetic studies in male infertility: a review. Hum. Reprod 1991;6(2):245–50.</mixed-citation><mixed-citation xml:lang="en">De Braekeleer M., Dao T.N. Cytogenetic studies in male infertility: a review. Hum. Reprod 1991;6(2):245–50.</mixed-citation></citation-alternatives></ref><ref id="cit9"><label>9</label><citation-alternatives><mixed-citation xml:lang="ru">Van Assche E., Bonduelle M., Tournaye H. et al. Cytogenetics of infertile men. Hum Reprod 1996;11(Supp l) 4:1–24.</mixed-citation><mixed-citation xml:lang="en">Van Assche E., Bonduelle M., Tournaye H. et al. Cytogenetics of infertile men. Hum Reprod 1996;11(Supp l) 4:1–24.</mixed-citation></citation-alternatives></ref><ref id="cit10"><label>10</label><citation-alternatives><mixed-citation xml:lang="ru">Gardner R.J.M., Sutherland G.R., Shaffer L.G. Chromosome abnormalities and genetic counseling. 4th ed. New York: Oxford University Press, 2012. 634 p.</mixed-citation><mixed-citation xml:lang="en">Gardner R.J.M., Sutherland G.R., Shaffer L.G. Chromosome abnormalities and genetic counseling. 4th ed. New York: Oxford University Press, 2012. 634 p.</mixed-citation></citation-alternatives></ref><ref id="cit11"><label>11</label><citation-alternatives><mixed-citation xml:lang="ru">McLachlan R.I., O’Bryan M.K. State of the art for genetic testing of infertile men. J Clin Endocrinol Metab 2010;95(3):1013–24.</mixed-citation><mixed-citation xml:lang="en">McLachlan R.I., O’Bryan M.K. State of the art for genetic testing of infertile men. J Clin Endocrinol Metab 2010;95(3):1013–24.</mixed-citation></citation-alternatives></ref><ref id="cit12"><label>12</label><citation-alternatives><mixed-citation xml:lang="ru">Krausz C., Escamilla A.R., Chianese C. Genetics of male infertility: from research to clinic. Reproduction 2015;150(5):159–74.</mixed-citation><mixed-citation xml:lang="en">Krausz C., Escamilla A.R., Chianese C. Genetics of male infertility: from research to clinic. Reproduction 2015;150(5):159–74.</mixed-citation></citation-alternatives></ref><ref id="cit13"><label>13</label><citation-alternatives><mixed-citation xml:lang="ru">Carrell D.T., Aston K.I., Oliva R. et al. The “omics” of human male infertility: integrating big data in a systems biology approach. Cell Tissue Res 2016;363(1):295–312.</mixed-citation><mixed-citation xml:lang="en">Carrell D.T., Aston K.I., Oliva R. et al. The “omics” of human male infertility: integrating big data in a systems biology approach. Cell Tissue Res 2016;363(1):295–312.</mixed-citation></citation-alternatives></ref><ref id="cit14"><label>14</label><citation-alternatives><mixed-citation xml:lang="ru">Суспицын Е.Н., Соколенко А.П. Применение молекулярных технологий нового поколения в медицинской генетике: Научно-образовательный курс для студентов медицинских вузов и врачей. СПб., 2013. 22 с. [Suspitsyn E.N., Sokolenko A.P. Use of next-generation molecular technologies in medical genetics: Educational course for medical universities and doctors. Saint-Petersburg, 2013. 22 p. (In Russ.)].</mixed-citation><mixed-citation xml:lang="en">Суспицын Е.Н., Соколенко А.П. Применение молекулярных технологий нового поколения в медицинской генетике: Научно-образовательный курс для студентов медицинских вузов и врачей. СПб., 2013. 22 с. [Suspitsyn E.N., Sokolenko A.P. Use of next-generation molecular technologies in medical genetics: Educational course for medical universities and doctors. Saint-Petersburg, 2013. 22 p. (In Russ.)].</mixed-citation></citation-alternatives></ref><ref id="cit15"><label>15</label><citation-alternatives><mixed-citation xml:lang="ru">Абилев С.К., Глазер В.М. Мутагенез с основами генотоксикологии: Учеб. пос. М.; СПб.: Нестор-История, 2015. 304 с. [Abilev S.K., Glazer V.M. Mutagenesis with the basics of genotoxicology: Textbook. Moscow; Saint-Petersburg: Nestor-Istoriya, 2015. 304 p. (In Russ.)].</mixed-citation><mixed-citation xml:lang="en">Абилев С.К., Глазер В.М. Мутагенез с основами генотоксикологии: Учеб. пос. М.; СПб.: Нестор-История, 2015. 304 с. [Abilev S.K., Glazer V.M. Mutagenesis with the basics of genotoxicology: Textbook. Moscow; Saint-Petersburg: Nestor-Istoriya, 2015. 304 p. (In Russ.)].</mixed-citation></citation-alternatives></ref><ref id="cit16"><label>16</label><citation-alternatives><mixed-citation xml:lang="ru">Ledig S., Röpke A., Wieacker P. Copy number variants in premature ovarian failure and ovarian dysgenesis. Sex Dev 2010;4(4–5):225–32.</mixed-citation><mixed-citation xml:lang="en">Ledig S., Röpke A., Wieacker P. Copy number variants in premature ovarian failure and ovarian dysgenesis. Sex Dev 2010;4(4–5):225–32.</mixed-citation></citation-alternatives></ref><ref id="cit17"><label>17</label><citation-alternatives><mixed-citation xml:lang="ru">Rajcan-Separovic E. Chromosome microarrays in human reproduction. Hum Reprod Update 2012;18(5):555–67.</mixed-citation><mixed-citation xml:lang="en">Rajcan-Separovic E. Chromosome microarrays in human reproduction. Hum Reprod Update 2012;18(5):555–67.</mixed-citation></citation-alternatives></ref><ref id="cit18"><label>18</label><citation-alternatives><mixed-citation xml:lang="ru">Rajcan-Separovic E., Diego-Alvarez D., Robinson W.P. et al. Identification of copy number variants in miscarriages from couples with idiopathic recurrent pregnancy loss. Hum Reprod 2010;25(11):2913–22.</mixed-citation><mixed-citation xml:lang="en">Rajcan-Separovic E., Diego-Alvarez D., Robinson W.P. et al. Identification of copy number variants in miscarriages from couples with idiopathic recurrent pregnancy loss. Hum Reprod 2010;25(11):2913–22.</mixed-citation></citation-alternatives></ref><ref id="cit19"><label>19</label><citation-alternatives><mixed-citation xml:lang="ru">Bagheri H., Mercier E., Qiao Y. et al. Genomic characteristics of miscarriage copy number variants. Mol Hum Reprod 2015;21(8):655–61.</mixed-citation><mixed-citation xml:lang="en">Bagheri H., Mercier E., Qiao Y. et al. Genomic characteristics of miscarriage copy number variants. Mol Hum Reprod 2015;21(8):655–61.</mixed-citation></citation-alternatives></ref><ref id="cit20"><label>20</label><citation-alternatives><mixed-citation xml:lang="ru">Barseghyan H., Délot E., Vilain E. New genomic technologies: an aid for diagnosis of disorders of sex development. Horm Metab Res 2015;47(5):312–20.</mixed-citation><mixed-citation xml:lang="en">Barseghyan H., Délot E., Vilain E. New genomic technologies: an aid for diagnosis of disorders of sex development. Horm Metab Res 2015;47(5):312–20.</mixed-citation></citation-alternatives></ref><ref id="cit21"><label>21</label><citation-alternatives><mixed-citation xml:lang="ru">Eggers S., DeBoer K.D., van den Bergen J. et al. Copy number variation associated with meiotic arrest in idiopathic male infertility. Fert Steril 2015;103(1):214–9.</mixed-citation><mixed-citation xml:lang="en">Eggers S., DeBoer K.D., van den Bergen J. et al. Copy number variation associated with meiotic arrest in idiopathic male infertility. Fert Steril 2015;103(1):214–9.</mixed-citation></citation-alternatives></ref><ref id="cit22"><label>22</label><citation-alternatives><mixed-citation xml:lang="ru">Lee C.H., Wu C.C., Wu Y.N., Chiang H.S. Gene copy number variations in Asian patients with congenital bilateral absence of the vas deferens. Hum Reprod 2009;24(3):748–55.</mixed-citation><mixed-citation xml:lang="en">Lee C.H., Wu C.C., Wu Y.N., Chiang H.S. Gene copy number variations in Asian patients with congenital bilateral absence of the vas deferens. Hum Reprod 2009;24(3):748–55.</mixed-citation></citation-alternatives></ref><ref id="cit23"><label>23</label><citation-alternatives><mixed-citation xml:lang="ru">Krausz C., Chianese C., Giachini C. et al. The Y chromosome-linked copy number variations and male fertility. J Endocrinol Invest 2011;34(5):376–82.</mixed-citation><mixed-citation xml:lang="en">Krausz C., Chianese C., Giachini C. et al. The Y chromosome-linked copy number variations and male fertility. J Endocrinol Invest 2011;34(5):376–82.</mixed-citation></citation-alternatives></ref><ref id="cit24"><label>24</label><citation-alternatives><mixed-citation xml:lang="ru">Tütelmann F., Simoni M., Kliesch S. et al. Copy number variants in patients with severe oligozoospermia and Sertoli-cellonly syndrome. PLoS One 2011;6(4):e19426.</mixed-citation><mixed-citation xml:lang="en">Tütelmann F., Simoni M., Kliesch S. et al. Copy number variants in patients with severe oligozoospermia and Sertoli-cellonly syndrome. PLoS One 2011;6(4):e19426.</mixed-citation></citation-alternatives></ref><ref id="cit25"><label>25</label><citation-alternatives><mixed-citation xml:lang="ru">Krausz C., Giachini C., Lo Giacco D. et al. High resolution X chromosome-specific array-CGH detects new CNVs in infertile males. PLoS One 2012;7(10):e44887.</mixed-citation><mixed-citation xml:lang="en">Krausz C., Giachini C., Lo Giacco D. et al. High resolution X chromosome-specific array-CGH detects new CNVs in infertile males. PLoS One 2012;7(10):e44887.</mixed-citation></citation-alternatives></ref><ref id="cit26"><label>26</label><citation-alternatives><mixed-citation xml:lang="ru">Chianese C., Gunning A.C., Giachini C. et al. X chromosome-linked CNVs in male infertility: discovery of overall duplication load and recurrent, patient-specific gains with potential clinical relevance. PLoS One 2014;9(6):e97746.</mixed-citation><mixed-citation xml:lang="en">Chianese C., Gunning A.C., Giachini C. et al. X chromosome-linked CNVs in male infertility: discovery of overall duplication load and recurrent, patient-specific gains with potential clinical relevance. PLoS One 2014;9(6):e97746.</mixed-citation></citation-alternatives></ref><ref id="cit27"><label>27</label><citation-alternatives><mixed-citation xml:lang="ru">Lo Giacco D., Chianese C., SánchezCurbelo J. et al. Clinical relevance of Ylinked CNV screening in male infertility: new insights based on the 8-year experience of a diagnostic genetic laboratory. Europ J Hum Genet 2014;22(6):754–61.</mixed-citation><mixed-citation xml:lang="en">Lo Giacco D., Chianese C., SánchezCurbelo J. et al. Clinical relevance of Ylinked CNV screening in male infertility: new insights based on the 8-year experience of a diagnostic genetic laboratory. Europ J Hum Genet 2014;22(6):754–61.</mixed-citation></citation-alternatives></ref><ref id="cit28"><label>28</label><citation-alternatives><mixed-citation xml:lang="ru">Dong Y., Pan Y., Wang R. et al. Copy number variations in spermatogenic failure patients with chromosomal abnormalities and unexplained azoospermia. Genet Mol Res 2015;14(4):16041–9.</mixed-citation><mixed-citation xml:lang="en">Dong Y., Pan Y., Wang R. et al. Copy number variations in spermatogenic failure patients with chromosomal abnormalities and unexplained azoospermia. Genet Mol Res 2015;14(4):16041–9.</mixed-citation></citation-alternatives></ref><ref id="cit29"><label>29</label><citation-alternatives><mixed-citation xml:lang="ru">Ребриков Д.В., Коростин Д.О., Шубина Е.С., Ильинский В.В. NGS: высокопроизводительное секвенирование. Под общ. ред. Д.В. Ребрикова. 2-е изд. М.: Бином. Лаборатория знаний, 2015. 232 с. [Rebrikov D.V., Korostin D.O., Shubina E.S., Ilyinskiy V.V. NGS:Highperformance sequencing. Ed. D.V. Rebrikov. 2nd edition. Moscow: Binom. Laboratoriya znaniy, 2015. 232 p. (In Russ.)].</mixed-citation><mixed-citation xml:lang="en">Ребриков Д.В., Коростин Д.О., Шубина Е.С., Ильинский В.В. NGS: высокопроизводительное секвенирование. Под общ. ред. Д.В. Ребрикова. 2-е изд. М.: Бином. Лаборатория знаний, 2015. 232 с. [Rebrikov D.V., Korostin D.O., Shubina E.S., Ilyinskiy V.V. NGS:Highperformance sequencing. Ed. D.V. Rebrikov. 2nd edition. Moscow: Binom. Laboratoriya znaniy, 2015. 232 p. (In Russ.)].</mixed-citation></citation-alternatives></ref><ref id="cit30"><label>30</label><citation-alternatives><mixed-citation xml:lang="ru">Worthey E.A. Analysis and annotation of whole-genome or whole-exome sequencing-derived variants for clinical diagnosis. Curr Protoc Hum Genet 2013;79:Unit 9.24.</mixed-citation><mixed-citation xml:lang="en">Worthey E.A. Analysis and annotation of whole-genome or whole-exome sequencing-derived variants for clinical diagnosis. Curr Protoc Hum Genet 2013;79:Unit 9.24.</mixed-citation></citation-alternatives></ref><ref id="cit31"><label>31</label><citation-alternatives><mixed-citation xml:lang="ru">Shen Y., Yan Y., Liu Y. et al. A significant effect of the TSPY1 copy number on spermatogenesis efficiency and the phenotypic expression of the gr/gr deletion. Hum Mol Genet 2013;22(8):1679–95.</mixed-citation><mixed-citation xml:lang="en">Shen Y., Yan Y., Liu Y. et al. A significant effect of the TSPY1 copy number on spermatogenesis efficiency and the phenotypic expression of the gr/gr deletion. Hum Mol Genet 2013;22(8):1679–95.</mixed-citation></citation-alternatives></ref><ref id="cit32"><label>32</label><citation-alternatives><mixed-citation xml:lang="ru">Aston K.I., Carrell D.T. Genome-wide study of single-nucleotide polymorphisms associated with azoospermia and severe oligozoospermia. J Androl 2009;30(6):711–25.</mixed-citation><mixed-citation xml:lang="en">Aston K.I., Carrell D.T. Genome-wide study of single-nucleotide polymorphisms associated with azoospermia and severe oligozoospermia. J Androl 2009;30(6):711–25.</mixed-citation></citation-alternatives></ref><ref id="cit33"><label>33</label><citation-alternatives><mixed-citation xml:lang="ru">Aston K.I., Krausz C., Laface I. et al. Evaluation of 172 candidate polymorphisms for association with oligozoospermia or azoospermia in a large cohort of men of European descent. Hum Reprod 2010;25(6):1383–97.</mixed-citation><mixed-citation xml:lang="en">Aston K.I., Krausz C., Laface I. et al. Evaluation of 172 candidate polymorphisms for association with oligozoospermia or azoospermia in a large cohort of men of European descent. Hum Reprod 2010;25(6):1383–97.</mixed-citation></citation-alternatives></ref><ref id="cit34"><label>34</label><citation-alternatives><mixed-citation xml:lang="ru">Yang F., Eckardt S., Leu N.A. et al. Mouse TEX15 is essential for DNA double-strand break repair and chromosomal synapsis during male meiosis. J Cell Biol 2008;180(4):673–9.</mixed-citation><mixed-citation xml:lang="en">Yang F., Eckardt S., Leu N.A. et al. Mouse TEX15 is essential for DNA double-strand break repair and chromosomal synapsis during male meiosis. J Cell Biol 2008;180(4):673–9.</mixed-citation></citation-alternatives></ref><ref id="cit35"><label>35</label><citation-alternatives><mixed-citation xml:lang="ru">Wang W., Lu N., Xia Y. et al. FAS and FASLG polymorphisms and susceptibility to idiopathic azoospermia or severe oligozoospermia. Reprod Biomed Online 2009;18(1):141–7.</mixed-citation><mixed-citation xml:lang="en">Wang W., Lu N., Xia Y. et al. FAS and FASLG polymorphisms and susceptibility to idiopathic azoospermia or severe oligozoospermia. Reprod Biomed Online 2009;18(1):141–7.</mixed-citation></citation-alternatives></ref><ref id="cit36"><label>36</label><citation-alternatives><mixed-citation xml:lang="ru">Xu M., Qin Y., Qu J. et al. Evaluation of five candidate genes from GWAS for association with oligozoospermia in a Han Chinese population. PLoS One 2013;8(11):e80374.</mixed-citation><mixed-citation xml:lang="en">Xu M., Qin Y., Qu J. et al. Evaluation of five candidate genes from GWAS for association with oligozoospermia in a Han Chinese population. PLoS One 2013;8(11):e80374.</mixed-citation></citation-alternatives></ref><ref id="cit37"><label>37</label><citation-alternatives><mixed-citation xml:lang="ru">Sato Y., Tajima A., Tsunematsu K. et al. An association study of four candidate loci for human male fertility traits with male infertility. Hum Reprod 2015;30(6):1510–4.</mixed-citation><mixed-citation xml:lang="en">Sato Y., Tajima A., Tsunematsu K. et al. An association study of four candidate loci for human male fertility traits with male infertility. Hum Reprod 2015;30(6):1510–4.</mixed-citation></citation-alternatives></ref><ref id="cit38"><label>38</label><citation-alternatives><mixed-citation xml:lang="ru">Хаят С.Ш. Ультраструктурные и генетические основы двигательной активности жгутика сперматозоида. Андрология и генитальная хирургия 2012; (1):59–61. [Khayat S.Sh. Ultrastructural and genetic basics of spermatozoon flagellum mobility. Andrologiya i genitalnaya khirurgiya = Andrology and Genital Surgery 2012; (1):59–61. (In Russ.)].</mixed-citation><mixed-citation xml:lang="en">Хаят С.Ш. Ультраструктурные и генетические основы двигательной активности жгутика сперматозоида. Андрология и генитальная хирургия 2012; (1):59–61. [Khayat S.Sh. Ultrastructural and genetic basics of spermatozoon flagellum mobility. Andrologiya i genitalnaya khirurgiya = Andrology and Genital Surgery 2012; (1):59–61. (In Russ.)].</mixed-citation></citation-alternatives></ref><ref id="cit39"><label>39</label><citation-alternatives><mixed-citation xml:lang="ru">Lu C., Xu M., Wang R. et al. A genomewide association study of mitochondrial DNA in Chinese men identifies two risk single nucleotide substitutions for idiopathic oligoasthenospermia. Mitochondrion 2015;24:87–92.</mixed-citation><mixed-citation xml:lang="en">Lu C., Xu M., Wang R. et al. A genomewide association study of mitochondrial DNA in Chinese men identifies two risk single nucleotide substitutions for idiopathic oligoasthenospermia. Mitochondrion 2015;24:87–92.</mixed-citation></citation-alternatives></ref><ref id="cit40"><label>40</label><citation-alternatives><mixed-citation xml:lang="ru">Arboleda V.A., Lee H., Sanchez F.J. et al. Targeted massively parallel sequencing provides comprehensive genetic diagnosis for patients with disorders of sex development. Clin Genet 2013;83(1):35–43.</mixed-citation><mixed-citation xml:lang="en">Arboleda V.A., Lee H., Sanchez F.J. et al. Targeted massively parallel sequencing provides comprehensive genetic diagnosis for patients with disorders of sex development. Clin Genet 2013;83(1):35–43.</mixed-citation></citation-alternatives></ref><ref id="cit41"><label>41</label><citation-alternatives><mixed-citation xml:lang="ru">Baxter R.M., Arboleda V.A., Lee H. et al. Exome sequencing for the diagnosis of 46,XY disorders of sex development. J Clin Endocrinol Metab 2015;100(2):E333–44.</mixed-citation><mixed-citation xml:lang="en">Baxter R.M., Arboleda V.A., Lee H. et al. Exome sequencing for the diagnosis of 46,XY disorders of sex development. J Clin Endocrinol Metab 2015;100(2):E333–44.</mixed-citation></citation-alternatives></ref><ref id="cit42"><label>42</label><citation-alternatives><mixed-citation xml:lang="ru">Quaynor S.D., Bosley M.E., Duckworth C.G. et al. Targeted next generation sequencing approach identifies eighteen new candidate genes in normosmic hypogonadotropic hypogonadism and Kallmann syndrome. Mol Cell Endocrinol 2016;437:86–96.</mixed-citation><mixed-citation xml:lang="en">Quaynor S.D., Bosley M.E., Duckworth C.G. et al. Targeted next generation sequencing approach identifies eighteen new candidate genes in normosmic hypogonadotropic hypogonadism and Kallmann syndrome. Mol Cell Endocrinol 2016;437:86–96.</mixed-citation></citation-alternatives></ref><ref id="cit43"><label>43</label><citation-alternatives><mixed-citation xml:lang="ru">Marshall C.R., Scherer S.W., Zariwala M.A. et al. Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia. G3 (Bethesda) 2015;5(8):1775–81.</mixed-citation><mixed-citation xml:lang="en">Marshall C.R., Scherer S.W., Zariwala M.A. et al. Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia. G3 (Bethesda) 2015;5(8):1775–81.</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>
