medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.25557/2073-7998.2024.02.46-54medgen-2421Research ArticleОРИГИНАЛЬНЫЕ ИССЛЕДОВАНИЯORIGINAL RESEARCHИсследование микроделеций Y-хромосомы и сперматологических нарушений у пациентов с Y-аутосомными транслокациямиAn evaluation of the Y chromosome microdeletions and spermatogenesis defects in patients with Y-autosomal translocationsШтаутМ. И.ShtautM. I.

115522, г. Москва, ул. Москворечье, д. 1

1, Moskvorechye st., Moscow 115522

ОпаринаН. В.OparinaN. V.

119435, Москва, ГСП-1, Абрикосовский пер., д.2 

2, Abrikosovsky pereulok, Moscow, 119435

АндрееваМ. В.AndreevaM. V.

115522, г. Москва, ул. Москворечье, д. 1

1, Moskvorechye st., Moscow 115522

КурилоЛ. Ф.KuriloL. F.

115522, г. Москва, ул. Москворечье, д. 1

1, Moskvorechye st., Moscow 115522

СолововаО. А.SolovovaA. O.

115522, г. Москва, ул. Москворечье, д. 1

1, Moskvorechye st., Moscow 115522

СорокинаТ. М.SorokinaT. M.

115522, г. Москва, ул. Москворечье, д. 1

1, Moskvorechye st., Moscow 115522

ШиловаН. В.ShilovaN. V.

115522, г. Москва, ул. Москворечье, д. 1

1, Moskvorechye st., Moscow 115522

ПоляковА. В.PolyakovA. V.

115522, г. Москва, ул. Москворечье, д. 1

1, Moskvorechye st., Moscow 115522

ЧерныхВ. Б.ChernykhV. B.

115522, г. Москва, ул. Москворечье, д. 1

117997, г. Москва, Россия, ул. Островитянова, д. 1

1, Moskvorechye st., Moscow 115522

1, Ostrovityanova st., Moscow, 117997

chernykh@med-gen.ruФГБНУ Медико-генетический научный центр имени академика Н.П. БочковаРоссияResearch Centre for Medical GeneticsRussian FederationФГБНУ Российский научный центр хирургии имени академика Б. В. ПетровскогоРоссияPetrovsky National Research Centre of SurgeryRussian FederationФГБНУ Медико-генетический научный центр имени академика Н.П. Бочкова; ФГАОУ ВО Российский национальный исследовательский медицинский университет им. Н.И. Пирогова Министерства здравоохранения Российской ФедерацииРоссияResearch Centre for Medical Genetics; N.I. Pirogov Russian National Research Medical University of the Ministry of Health of the Russian FederationRussian Federation2024260320242324654Copyright © Штаут М.И., Опарина Н.В., Андреева М.В., Курило Л.Ф., Соловова О.А., Сорокина Т.М., Шилова Н.В., Поляков А.В., Черных В.Б., 20242024Штаут М.И., Опарина Н.В., Андреева М.В., Курило Л.Ф., Соловова О.А., Сорокина Т.М., Шилова Н.В., Поляков А.В., Черных В.Б.Shtaut M.I., Oparina N.V., Andreeva M.V., Kurilo L.F., Solovova A.O., Sorokina T.M., Shilova N.V., Polyakov A.V., Chernykh V.B.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.medgen-journal.ru/jour/article/view/2421

Y-aутосомные транслокации – редкие структурные аномалии хромосом, которые оказывают различное влияние на развитие половой системы, гаметогенез и фертильность. В статье представлены результаты генетического и сперматологического обследования группы из 14 мужчин с Y-аутосомными транслокациями. Выполняли цитогенетическое, молекулярно-цитогенетическое (FISH), молекулярно-генетическое и комплексное сперматологическое (стандартный спермиологический анализ и количественный кариологический анализ незрелых половых клеток из осадка эякулята – ККА НПК) исследования. У всех пациентов выявлены немозаичные Y-аутосомные перестройки: 10 сбалансированных транслокаций (с аутосомами 1; 8; 13-16; 20; 21) и 4 несбалансированные перестройки (с аутосомами 5, 13, 22). Пациенты являлись фенотипически нормальными мужчинами, без аномалий формирования пола, пороков развития, нарушения роста, физического развития, умственной отсталости. По результатам молекулярного анализа Y-хромосомы ген SRY  выявлен у13 пациентов, патогенные микроделеции в локусе Yq11.2 (AZFa+b+c, AZFb+c) обнаружены у двух пациентов. У одного пациента молекулярный анализ не проводился. По данным сперматологического анализа у 11 пациентов обнаружена азооспермия, у одного – олигозооспермия тяжелой степени, у одного – олигоастенозооспермия, у одного – нормозооспермия. Признаки полного или частичного блока сперматогенеза в профазе I мейоза выявлены у 3 из 7 пациентов, которым выполнен ККА ПНК.

Y-autosome translocations are rare structural chromosomal abnormalities that have a different effect on the reproductive system, gametogenesis and human fertility. The article presents the results of genetic and semen examination of a group of 14 men with Y-autosomal translocations. Cytogenetic, molecular cytogenetic, molecular cytogenetic (FISH), molecular genetic and complex semen studies, including standard semen analysis and quantitative karyological analysis of immature germ cells (QKA of IGCs) from the ejaculate sediment, were performed. Non-mosaic (10 balanced and 4 unbalanced) translocations involving the Y chromosome and one of the autosomes (chromosomes 1, 5, 8, 13-16, 20-22) were detected. The patients were phenotypically normal men, without disorders of sex development, congenital malformations, growth and physical development disorders, mental retardation. Molecular analysis of the Y chromosome performed in 13 patients has detected the SRY locus in all patients; pathogenic Yq11 microdeletions (AZFa+b+c, AZFb+c) were found in two patients. Semen analysis shown various diagnosis, including azoospermia (n=11), severe oligozoospermia (n=1), oligoastenozoospermia (n=1), and normozoospermia (n=1). Signs of a complete or partial фдarrest at prophase I of meiosis were detected in 3 out of 7 patients who underwent QKA of IGCs.

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The authors declare that there are no conflicts of interest present.