17 research outputs found

    Seed size and cold stratification affect Acer negundo and Acer ginnala seeds germination

    Get PDF
    The aim of this work is to determine how the germination of seeds of the invasive tree Acer negundo depends on the period of cold stratification under the snow and the duration of stratification in the air on the branches of the trees. For comparison with A. negundo, we used seeds of Acer ginnala, introduced but not invasive tree in the Middle Urals. The period of stratification in the air modeled by collecting seeds in October and December. The duration of cold stratification under the snow was 0, 1, 2, 3 and 4 months. We hypothesized that the duration of stratification in the air did not affect the germination of A. negundo and A. ginnala seeds. Cold stratification under the snow had a positive effect on seed germination of both species. The best seed germination of A. negundo and A. ginnala was after 4 months of cold stratification under the snow, the germination rate differs: in A. negundo 12 Β± 4% (small seeds) and 79 Β± 7% (large seeds), in A. ginnala – 1 Β± 2% (small seeds) and 18 Β± 4% (large seeds). In both species, large seeds germinated at 7 to 18 times more intensively than small ones. In A. ginnala case, even after cold stratification under snow for 4 months, no more than 22% of the seeds germinated. The germination of A. ginnala seeds was 4–5 times lower than that of A. negundo seeds

    Π£ΡΡ‚ΡŒ-ишимская ΠΊΠΎΡΡ‚ΡŒ: минСралогогСохимичСскиС свойства ΠΊΠ°ΠΊ источник палСонтологичСской, палСоантропологичСской ΠΈ палСоэкологичСской ΠΈΠ½Ρ„ΠΎΡ€ΠΌΠ°Ρ†ΠΈΠΈ

    Get PDF
    Ust-Ishim man was the representative of one of the ancestral groups of the Homo sapiens, Neanderthals and Denisovans. The first results of a comprehensive mineralogical and geochemical study of fossil bones using a wide range of physical, chemical and physico-chemical methods: thermal analysis, optical microscopy, scanning electron microscopy, atomic-force microscopy, nitrogen capillary condensation method, X-ray fluorescence analysis, ISP-MS, gas chromatography method, amino acid chromatography analysis’s, X-ray microprobe method, X-ray diffraction method, Raman and infrared spectroscopy, isotope spectrometry are presented in this article. The studied fragment of the skeleton is of higher preservation rate than the common bone detritus of this age and even the fossils of younger Pleistocene animals that allowed determining almost all its primary properties. The unique preservation presumably was provided by the favorable environment and a special way the Ust-Ishim man originally was buried. Results of study of the chemical and mineral composition of the bone fossils allowed a reconstruction of the Ust-Ishim man life history.Π’ΠΏΠ΅Ρ€Π²Ρ‹Π΅ ΠΏΡ€ΠΎΠ²Π΅Π΄Π΅Π½ΠΎ ΠΌΠΈΠ½Π΅Ρ€Π°Π»ΠΎΠ³ΠΎ-гСохимичСскоС исслСдованиС ископаСмой кости с использованиСм ΡˆΠΈΡ€ΠΎΠΊΠΎΠ³ΠΎ комплСкса физичСских, Ρ„ΠΈΠ·ΠΈΠΊΠΎ-химичСских ΠΈ химичСских ΠΌΠ΅Ρ‚ΠΎΠ΄ΠΎΠ²: тСрмичСского Π°Π½Π°Π»ΠΈΠ·Π°, оптичСской, ΡΠΊΠ°Π½ΠΈΡ€ΡƒΡŽΡ‰Π΅ΠΉ элСктронной, ΡΠΊΠ°Π½ΠΈΡ€ΡƒΡŽΡ‰Π΅ΠΉ Π·ΠΎΠ½Π΄ΠΎΠ²ΠΎΠΉ микроскопии, капиллярной кондСнсации Π°Π·ΠΎΡ‚Π°, рСнтгСнфлуорСсцСнтного Π°Π½Π°Π»ΠΈΠ·Π°, ИБП-МБ, Π³Π°Π·ΠΎΠ²ΠΎΠΉ Ρ…Ρ€ΠΎΠΌΠ°Ρ‚ΠΎΠ³Ρ€Π°Ρ„ΠΈΠΈ, Ρ€Π΅Π½Ρ‚Π³Π΅Π½ΠΎΡΠΏΠ΅ΠΊΡ‚Ρ€Π°Π»ΡŒΠ½ΠΎΠ³ΠΎ ΠΌΠΈΠΊΡ€ΠΎΠ·ΠΎΠ½Π΄ΠΎΠ²ΠΎΠ³ΠΎ Π°Π½Π°Π»ΠΈΠ·Π°, рСнтгСновской Π΄ΠΈΡ„Ρ€Π°ΠΊΡ†ΠΈΠΈ, инфракрасной ΠΈ КР спСктроскопии, ΠΈΠ·ΠΎΡ‚ΠΎΠΏΠ½ΠΎΠΉ спСктромСтрии. Π˜Π·ΡƒΡ‡Π΅Π½Π½Ρ‹ΠΉ Π½Π°ΠΌΠΈ Ρ„Ρ€Π°Π³ΠΌΠ΅Π½Ρ‚ кости ΡƒΡΡ‚ΡŒΠΈΡˆΠΈΠΌΡΠΊΠΎΠ³ΠΎ Ρ‡Π΅Π»ΠΎΠ²Π΅ΠΊΠ° Π½Π° Ρ„ΠΎΠ½Π΅ костного Π΄Π΅Ρ‚Ρ€ΠΈΡ‚Π° соврСмСнных Π΅ΠΌΡƒ ΠΈ Π΄Π°ΠΆΠ΅ Π·Π½Π°Ρ‡ΠΈΡ‚Π΅Π»ΡŒΠ½ΠΎ Π±ΠΎΠ»Π΅Π΅ ΠΌΠΎΠ»ΠΎΠ΄Ρ‹Ρ… плСйстоцСновых промысловых ΠΆΠΈΠ²ΠΎΡ‚Π½Ρ‹Ρ… характСризуСтся аномально высокой ΡΡ‚Π΅ΠΏΠ΅Π½ΡŒΡŽ сохранности практичСски ΠΏΠΎ всСм своим свойствам. Π€Π΅Π½ΠΎΠΌΠ΅Π½ ΡΡ‚ΠΎΠ»ΡŒ аномальной сохранности ΠΌΠΎΠΆΠ½ΠΎ ΠΎΠ±ΡŠΡΡΠ½ΠΈΡ‚ΡŒ Ρ‚Π΅ΠΌ, Ρ‡Ρ‚ΠΎ ΡƒΡΡ‚ΡŒΠΈΡˆΠΈΠΌΡΠΊΠΈΠΉ Ρ‡Π΅Π»ΠΎΠ²Π΅ΠΊ ΠΏΠ΅Ρ€Π²ΠΎΠ½Π°Ρ‡Π°Π»ΡŒΠ½ΠΎ Π±Ρ‹Π» Π·Π°Ρ…ΠΎΡ€ΠΎΠ½Π΅Π½ Π»ΠΈΠ±ΠΎ Π² особом мСстС, Π»ΠΈΠ±ΠΎ особСнным способом

    ΠžΡΠΎΠ±Π΅Π½Π½ΠΎΡΡ‚ΠΈ ΠΊΠΎΠ½Ρ‚Π°ΠΊΡ‚Π° с Π»Π΅Ρ‡Π°Ρ‰ΠΈΠΌ Π²Ρ€Π°Ρ‡ΠΎΠΌ ΠΈ ΡƒΠ΄ΠΎΠ²Π»Π΅Ρ‚Π²ΠΎΡ€Π΅Π½Π½ΠΎΡΡ‚ΡŒ ΠΏΠΎΠ»ΡƒΡ‡Π°Π΅ΠΌΠΎΠΉ мСдицинской ΠΏΠΎΠΌΠΎΡ‰ΡŒΡŽ Ρƒ ΠΏΠ°Ρ†ΠΈΠ΅Π½Ρ‚ΠΎΠ², госпитализированных Π² связи с ΠΏΠΎΠ΄Ρ‚Π²Π΅Ρ€ΠΆΠ΄Π΅Π½Π½Ρ‹ΠΌ COVID-19

    Get PDF
    Background. The number of hospitalized patients diagnosed with coronavirus infection in MarchMay 2020 increased in almost all countries. Of course, such a pandemic has become a challenge for the entire health care system. In the current conditions, maintaining high standards of quality of medical care, establishing contact between specialists and the patient is a separate difficult task; at the same time, it is precisely the contact with specialists and the subjectively perceived quality of care that plays an important role in establishing compliance, and, therefore, in the success of patient treatment. Our research is devoted to the search for ways to solve this problem. Aims to study the features of the emotional state of patients hospitalized for COVID-19 and describe the contribution of these features to interaction in the doctor-patient dyad and satisfaction with the medical care received. Methods. The study involved 127 people hospitalized with a confirmed diagnosis of COVID-19. The research methods used: 1) a questionnaire developed by the authors, which included socio-demographic data and a block of questions about interaction with a doctor and medical personnel; 2) the Russian-language version of the Beck Depression Inventory; 3) Russian-language version of the GAD-7 anxiety questionnaire. Results. 25.4% of participants have pronounced signs of anxiety, 24.13% signs of depression; 54% of patients indicate that the help they receive in the framework of hospitalization is sufficient; 7% speak of the need for support from a psychologist. Formulated information about what is happening with the patient is the key factor in contact with a doctor (for 62.9%), and a visible improvement in well-being is important only for 43.4%. The presence of anxious and depressive symptoms makes a qualitative difference in establishing contact with a doctor and assessing the severity of ones own condition. Conclusions. Based on the results of the study, in the future, it is possible to formulate various strategies for working with patients showing high rates of depressive and anxious experiences: such strategies should take into account the importance of close contact with the doctor and detailed information for patients. It is also important when building further work to take into account age characteristics (for example, a greater focus on working with a psychologist among the young population group), the time of hospitalization (whether they coincide with the dates traditionally significant in culture) and the gender of patients. It is also important to take into account that in a COVID-19 situation, it is decisive in contact with a doctor to obtain clear and accessible information about the patients condition and prescriptions made on time, and not a significant improvement in well-being.ОбоснованиС. Π§ΠΈΡΠ»Π΅Π½Π½ΠΎΡΡ‚ΡŒ госпитализированных ΠΏΠ°Ρ†ΠΈΠ΅Π½Ρ‚ΠΎΠ² с диагностированной коронавирусной ΠΈΠ½Ρ„Π΅ΠΊΡ†ΠΈΠ΅ΠΉ Π² ΠΌΠ°Ρ€Ρ‚Π΅ΠΌΠ°Π΅ 2020 Π³. росла практичСски Π²ΠΎ всСх странах. БСзусловно, пандСмия стала Π²Ρ‹Π·ΠΎΠ²ΠΎΠΌ для всСй систСмы здравоохранСния. Π’ ΡΠ»ΠΎΠΆΠΈΠ²ΡˆΠΈΡ…ΡΡ условиях соблюдСниС высоких стандартов качСства мСдицинской ΠΏΠΎΠΌΠΎΡ‰ΠΈ, установлСниС ΠΊΠΎΠ½Ρ‚Π°ΠΊΡ‚Π° ΠΌΠ΅ΠΆΠ΄Ρƒ спСциалистами ΠΈ ΠΏΠ°Ρ†ΠΈΠ΅Π½Ρ‚ΠΎΠΌ ΠΏΡ€Π΅Π΄ΡΡ‚Π°Π²Π»ΡΡŽΡ‚ ΠΎΡ‚Π΄Π΅Π»ΡŒΠ½ΡƒΡŽ ΡΠ»ΠΎΠΆΠ½ΡƒΡŽ Π·Π°Π΄Π°Ρ‡Ρƒ. ΠŸΡ€ΠΈ этом ΠΈΠΌΠ΅Π½Π½ΠΎ ΠΊΠΎΠ½Ρ‚Π°ΠΊΡ‚ со спСциалистом ΠΈ ΡΡƒΠ±ΡŠΠ΅ΠΊΡ‚ΠΈΠ²Π½ΠΎ воспринимаСмоС качСство ΠΏΠΎΠΌΠΎΡ‰ΠΈ ΠΈΠ³Ρ€Π°ΡŽΡ‚ Π±ΠΎΠ»ΡŒΡˆΡƒΡŽ Ρ€ΠΎΠ»ΡŒ Π² установлСнии комплаСнса, Π° Π·Π½Π°Ρ‡ΠΈΡ‚, ΠΈ Π² ΡƒΡΠΏΠ΅ΡˆΠ½ΠΎΡΡ‚ΠΈ лСчСния ΠΏΠ°Ρ†ΠΈΠ΅Π½Ρ‚ΠΎΠ². Поискам ΠΏΡƒΡ‚Π΅ΠΉ Ρ€Π΅ΡˆΠ΅Π½ΠΈΡ этой Π·Π°Π΄Π°Ρ‡ΠΈ посвящСно нашС исслСдованиС. ЦСль исслСдования ΠΈΠ·ΡƒΡ‡ΠΈΡ‚ΡŒ особСнности ΡΠΌΠΎΡ†ΠΈΠΎΠ½Π°Π»ΡŒΠ½ΠΎΠ³ΠΎ состояния ΠΏΠ°Ρ†ΠΈΠ΅Π½Ρ‚ΠΎΠ², госпитализированных Π² связи с COVID-19, ΠΈ ΠΎΠΏΠΈΡΠ°Ρ‚ΡŒ Π²ΠΊΠ»Π°Π΄ этих особСнностСй Π²ΠΎ взаимодСйствиС Π² Π΄ΠΈΠ°Π΄Π΅ Π²Ρ€Π°Ρ‡ΠΏΠ°Ρ†ΠΈΠ΅Π½Ρ‚ ΠΈ ΡƒΠ΄ΠΎΠ²Π»Π΅Ρ‚Π²ΠΎΡ€Π΅Π½Π½ΠΎΡΡ‚ΡŒ ΠΏΠΎΠ»ΡƒΡ‡Π°Π΅ΠΌΠΎΠΉ мСдицинской ΠΏΠΎΠΌΠΎΡ‰ΡŒΡŽ. ΠœΠ΅Ρ‚ΠΎΠ΄Ρ‹. Π’ исслСдовании приняли участиС 127 Ρ‡Π΅Π»ΠΎΠ²Π΅ΠΊ, госпитализированных Π² ΠΊΠ»ΠΈΠ½ΠΈΠΊΡƒ Π² связи с ΠΏΠΎΠ΄Ρ‚Π²Π΅Ρ€ΠΆΠ΄Π΅Π½Π½Ρ‹ΠΌ Π΄ΠΈΠ°Π³Π½ΠΎΠ·ΠΎΠΌ COVID-19. Π’ качСствС ΠΌΠ΅Ρ‚ΠΎΠ΄ΠΈΠΊ исслСдования использовались: 1) разработанная Π°Π²Ρ‚ΠΎΡ€Π°ΠΌΠΈ Π°Π½ΠΊΠ΅Ρ‚Π°, Π²ΠΊΠ»ΡŽΡ‡Π°Π²ΡˆΠ°Ρ социодСмографичСскиС Π΄Π°Π½Π½Ρ‹Π΅ ΠΈ Π±Π»ΠΎΠΊ вопросов ΠΎ взаимодСйствии с Π»Π΅Ρ‡Π°Ρ‰ΠΈΠΌ Π²Ρ€Π°Ρ‡ΠΎΠΌ ΠΈ мСдицинским пСрсоналом; 2) русскоязычная вСрсия опросника дСпрСссии Π‘Π΅ΠΊΠ°; 3) русскоязычная вСрсия опросника Ρ‚Ρ€Π΅Π²ΠΎΠ³ΠΈ GAD-7. Π Π΅Π·ΡƒΠ»ΡŒΡ‚Π°Ρ‚Ρ‹. 25,4% участников ΠΈΠΌΠ΅ΡŽΡ‚ Π²Ρ‹Ρ€Π°ΠΆΠ΅Π½Π½Ρ‹Π΅ ΠΏΡ€ΠΈΠ·Π½Π°ΠΊΠΈ трСвоТности; 24,13% ΠΏΡ€ΠΈΠ·Π½Π°ΠΊΠΈ дСпрСссии; 54% ΠΏΠ°Ρ†ΠΈΠ΅Π½Ρ‚ΠΎΠ² ΡƒΠΊΠ°Π·Ρ‹Π²Π°ΡŽΡ‚, Ρ‡Ρ‚ΠΎ получаСмая ΠΈΠΌΠΈ Π² Ρ€Π°ΠΌΠΊΠ°Ρ… госпитализации ΠΏΠΎΠΌΠΎΡ‰ΡŒ достаточна; 7% говорят ΠΎ нСобходимости ΠΏΠΎΠ΄Π΄Π΅Ρ€ΠΆΠΊΠΈ психолога. ΠšΠ»ΡŽΡ‡Π΅Π²Ρ‹ΠΌ Ρ„Π°ΠΊΡ‚ΠΎΡ€ΠΎΠΌ Π² ΠΊΠΎΠ½Ρ‚Π°ΠΊΡ‚Π΅ с Π²Ρ€Π°Ρ‡ΠΎΠΌ оказываСтся доступно сформулированная информация ΠΎ происходящСм с ΠΏΠ°Ρ†ΠΈΠ΅Π½Ρ‚ΠΎΠΌ (для 62,9%), Π° Π²ΠΈΠ΄ΠΈΠΌΠΎΠ΅ ΡƒΠ»ΡƒΡ‡ΡˆΠ΅Π½ΠΈΠ΅ самочувствия Π²Π°ΠΆΠ½ΠΎ лишь для 43,4%. НаличиС Ρ‚Ρ€Π΅Π²ΠΎΠΆΠ½ΠΎΠΉ ΠΈ дСпрСссивной симптоматики вносит качСствСнноС ΠΎΡ‚Π»ΠΈΡ‡ΠΈΠ΅ Π² построСниС ΠΊΠΎΠ½Ρ‚Π°ΠΊΡ‚Π° с Π²Ρ€Π°Ρ‡ΠΎΠΌ ΠΈ ΠΎΡ†Π΅Π½ΠΊΡƒ тяТСсти собствСнного состояния. Π—Π°ΠΊΠ»ΡŽΡ‡Π΅Π½ΠΈΠ΅. Π Π΅Π·ΡƒΠ»ΡŒΡ‚Π°Ρ‚Ρ‹ исслСдования позволят Ρ„ΠΎΡ€ΠΌΠΈΡ€ΠΎΠ²Π°Ρ‚ΡŒ Ρ€Π°Π·Π»ΠΈΡ‡Π½Ρ‹Π΅ Π²Π°Ρ€ΠΈΠ°Π½Ρ‚Ρ‹ Ρ€Π°Π±ΠΎΡ‚Ρ‹ с ΠΏΠ°Ρ†ΠΈΠ΅Π½Ρ‚Π°ΠΌΠΈ, Π΄Π΅ΠΌΠΎΠ½ΡΡ‚Ρ€ΠΈΡ€ΡƒΡŽΡ‰ΠΈΠΌΠΈ высокиС ΠΏΠΎΠΊΠ°Π·Π°Ρ‚Π΅Π»ΠΈ дСпрСссивных ΠΈ Ρ‚Ρ€Π΅Π²ΠΎΠΆΠ½Ρ‹Ρ… ΠΏΠ΅Ρ€Π΅ΠΆΠΈΠ²Π°Π½ΠΈΠΉ: ΠΏΠΎΠ΄ΠΎΠ±Π½Ρ‹Π΅ Π²Π°Ρ€ΠΈΠ°Π½Ρ‚Ρ‹ Π΄ΠΎΠ»ΠΆΠ½Ρ‹ ΡƒΡ‡ΠΈΡ‚Ρ‹Π²Π°Ρ‚ΡŒ Π·Π½Π°Ρ‡ΠΈΠΌΠΎΡΡ‚ΡŒ Π±Π»ΠΈΠ·ΠΊΠΎΠ³ΠΎ ΠΊΠΎΠ½Ρ‚Π°ΠΊΡ‚Π° с Π²Ρ€Π°Ρ‡ΠΎΠΌ ΠΈ ΠΏΠΎΠ΄Ρ€ΠΎΠ±Π½ΠΎΠΉ ΠΈΠ½Ρ„ΠΎΡ€ΠΌΠ°Ρ†ΠΈΠΈ для ΠΏΠ°Ρ†ΠΈΠ΅Π½Ρ‚ΠΎΠ². Π’Π°ΠΊΠΆΠ΅ Π²Π°ΠΆΠ½ΠΎ ΠΏΡ€ΠΈ выстраивании дальнСйшСй Ρ€Π°Π±ΠΎΡ‚Ρ‹ ΠΏΡ€ΠΈΠ½ΠΈΠΌΠ°Ρ‚ΡŒ Π²ΠΎ Π²Π½ΠΈΠΌΠ°Π½ΠΈΠ΅ возрастныС особСнности, врСмя госпитализации ΠΈ ΠΏΠΎΠ» ΠΏΠ°Ρ†ΠΈΠ΅Π½Ρ‚ΠΎΠ². Π‘Π»Π΅Π΄ΡƒΠ΅Ρ‚ ΡƒΡ‡ΠΈΡ‚Ρ‹Π²Π°Ρ‚ΡŒ, Ρ‡Ρ‚ΠΎ Π² ситуации COVID-19 Ρ€Π΅ΡˆΠ°ΡŽΡ‰ΠΈΠΌΠΈ Π² ΠΊΠΎΠ½Ρ‚Π°ΠΊΡ‚Π΅ с Π²Ρ€Π°Ρ‡ΠΎΠΌ ΠΎΠΊΠ°Π·Ρ‹Π²Π°ΡŽΡ‚ΡΡ ΠΏΠΎΠ»ΡƒΡ‡Π΅Π½ΠΈΠ΅ понятной ΠΈ доступной ΠΈΠ½Ρ„ΠΎΡ€ΠΌΠ°Ρ†ΠΈΠΈ ΠΎ состоянии ΠΏΠ°Ρ†ΠΈΠ΅Π½Ρ‚Π° ΠΈ воврСмя сдСланныС прСдписания, Π° Π½Π΅ Π·Π½Π°Ρ‡ΠΈΠΌΠΎΠ΅ ΡƒΠ»ΡƒΡ‡ΡˆΠ΅Π½ΠΈΠ΅ самочувствия

    On the status and selectivity of the infant burials of the Yamnaya Archaeological Culture of the Southern Urals (based on the excavation materials of the burial mound No. 1 of the Boldyrevo-4 group)

    No full text
    Bioarchaeology is an important field of interdisciplinary research based upon the contextual study of anthropological materials. In particular, bioarchaeology of childhood appears to be the most specialised area of research, addressing quality of life and social patterns of ancient groups. In this paper, we continue the study of the infant remains from the burial mound No. 1 of the Boldyrevo-4 burial ground β€” one of the elite and largest burial mounds of the Yamnaya (Pit Grave) Culture in the northern part of the Volga-Urals. It was located on the left bank of the Irtek River, a tributary of the Ural, and had a diameter of 62 m and a reconstructed height of 8 m. The earliest horizon was represented by mounds Nos. 1 and 2 with close parameters. They contained one burial each (burials Nos. 3 and 4, respectively), located in the centers of the mound platforms, which belonged to children. Based on the results of our preliminary study, the child from burial No. 3 died of metastatic cancer (the most probable diagnosis is lymphocytic leukaemia). Burial No. 4 contained remains of two children. Child No. 1 from burial No. 4, represented only by the cranium, had possibly suffered from scurvy. Here we publish the results of the analysis of ancient DNA aimed at identifying the sex of the interred, as well as the results of the Sr isotope analysis, which allows determination of their β€˜local’ or β€˜distant’ origin. The quality of the ancient DNA was evaluated by targeted sequencing carried out using a specially designed panel of probes that allowed the selection of target sections of the genome for subsequent enrichment using the method of hybridisation, followed by the target NGS. The genetic data confirm that all three individuals belonged to the female sex. On the basis of Sr isotope ratios, the girls from burials Nos. 3 and 4 (No. 2) were born in the territories with different geochemical signals. Unfortunately, for the child No. 1 from burial No. 4 such observations could not be obtained. The biological age (around 6 years old), female sex attributes, and the presence of serious health conditions allows one to pose the question on the selective nature of the children burials in this mound of the Yamnaya Culture. Moreover, they could have received a special hereditary social status, which influenced the further erection of the burial mound for members of the elite

    Анализ ΠΌΡƒΡ‚Π°Ρ†ΠΈΠΉ Π² Π³Π΅Π½Π°Ρ… CDC27, CTBP2, HYDIN ΠΈ KMT5A ΠΏΡ€ΠΈ ΠΊΠ°Ρ€ΠΎΡ‚ΠΈΠ΄Π½Ρ‹Ρ… ΠΏΠ°Ρ€Π°Π³Π°Π½Π³Π»ΠΈΠΎΠΌΠ°Ρ…

    No full text
    Carotid paragangliomas (CPGLs) are rare neuroendocrine tumors that arise from paraganglionic tissue of the carotid body localizing at the bifurcation of carotid artery. These tumors are slowly growing, but occasionally they become aggressive and metastatic. Surgical treatment remains high-risk and extremely challenging; radiation and chemotherapy are poorly effective. The study of molecular pathogenesis of CPGLs will allow developing novel therapeutic approaches and revealing biomarkers. Previously, we performed the exome sequencing of 52 CPGLs and estimated mutational load (ML). Paired histologically normal tissues or blood were unavailable, so potentially germline mutations were excluded from the analysis with strong filtering conditions using 1000 Genomes Project and ExAC databases. In this work, ten genes (ZNF717, CDC27, FRG2C, FAM104B, CTBP2, HLA-DRB1, HYDIN, KMT5A, MUC3A, and PRSS3) characterized by the highest level of mutational load were analyzed. Using several prediction algorithms (SIFT, PolyPhen-2, MutationTaster, and LRT), potentially pathogenic mutations were identified in four genes (CDC27, CTBP2, HYDIN, and KMT5A). Many of these mutations occurred in the majority of cases, and their mutation type was checked using exome sequencing data of blood prepared with the same exome enrichment kit that was used for preparation of exome libraries from CPGLs. The majority of the mutations were germline that can apparently be associated with annotation errors in 1000 Genomes Project and ExAC. However, part of the mutations identified in CDC27, CTBP2, HYDIN, and KMT5A remain potentially pathogenic, and there is a large body of data on the involvement of these genes in the formation and progression of other tumors. This allows considering CDC27, CTBP2, HYDIN, and KMT5A genes as potentially associated with CPGL pathogenesis and requires taking them into account in further investigations. Thus, there is a necessity to improve the methods for identification of cancer-associated genes as well as pathogenic mutations.ΠšΠ°Ρ€ΠΎΡ‚ΠΈΠ΄Π½Ρ‹Π΅ ΠΏΠ°Ρ€Π°Π³Π°Π½Π³Π»ΠΈΠΎΠΌΡ‹ (ΠšΠŸΠ“) - Ρ€Π΅Π΄ΠΊΠΈΠ΅ нСйроэндокринныС ΠΎΠΏΡƒΡ…ΠΎΠ»ΠΈ, ΠΊΠΎΡ‚ΠΎΡ€Ρ‹Π΅ Ρ€Π°Π·Π²ΠΈΠ²Π°ΡŽΡ‚ΡΡ ΠΈΠ· ΠΏΠ°Ρ€Π°Π³Π°Π½Π³Π»ΠΈΠΎΠ½Π°Ρ€Π½ΠΎΠΉ Ρ‚ΠΊΠ°Π½ΠΈ ΠΊΠ°Ρ€ΠΎΡ‚ΠΈΠ΄Π½ΠΎΠ³ΠΎ Ρ‚Π΅Π»ΡŒΡ†Π° ΠΈ Ρ€Π°ΡΠΏΠΎΠ»Π°Π³Π°ΡŽΡ‚ΡΡ Π² области Π±ΠΈΡ„ΡƒΡ€ΠΊΠ°Ρ†ΠΈΠΈ сонной Π°Ρ€Ρ‚Π΅Ρ€ΠΈΠΈ. Π­Ρ‚ΠΈ ΠΎΠΏΡƒΡ…ΠΎΠ»ΠΈ Ρ…Π°Ρ€Π°ΠΊΡ‚Π΅Ρ€ΠΈΠ·ΡƒΡŽΡ‚ΡΡ ΠΌΠ΅Π΄Π»Π΅Π½Π½Ρ‹ΠΌ ростом, ΠΎΠ΄Π½Π°ΠΊΠΎ Π² рядС случаСв Π½Π°Π±Π»ΡŽΠ΄Π°Π΅Ρ‚ΡΡ агрСссивноС Ρ‚Π΅Ρ‡Π΅Π½ΠΈΠ΅ заболСвания ΠΈ мСтастазированиС. ΠžΠΏΠ΅Ρ€Π°Ρ†ΠΈΠΈ ΠΏΠΎ ΡƒΠ΄Π°Π»Π΅Π½ΠΈΡŽ ΠΊΠ°Ρ€ΠΎΡ‚ΠΈΠ΄Π½Ρ‹Ρ… ΠΏΠ°Ρ€Π°Π³Π°Π½Π³Π»ΠΈΠΎΠΌ сопряТСны с высоким риском ослоТнСний, Π² Ρ‚ΠΎ врСмя ΠΊΠ°ΠΊ лучСвая ΠΈ химиотСрапия малоэффСктивны. Π˜Π·ΡƒΡ‡Π΅Π½ΠΈΠ΅ молСкулярного ΠΏΠ°Ρ‚ΠΎΠ³Π΅Π½Π΅Π·Π° ΠšΠŸΠ“ ΠΌΠΎΠΆΠ΅Ρ‚ ΡΠΏΠΎΡΠΎΠ±ΡΡ‚Π²ΠΎΠ²Π°Ρ‚ΡŒ Ρ€Π°Π·Ρ€Π°Π±ΠΎΡ‚ΠΊΠ΅ Π½ΠΎΠ²Ρ‹Ρ… ΠΏΠΎΠ΄Ρ…ΠΎΠ΄ΠΎΠ² ΠΊ Ρ‚Π΅Ρ€Π°ΠΏΠΈΠΈ ΠΈ ΠΎΡ‚ΠΊΡ€Ρ‹Ρ‚ΠΈΡŽ Π±ΠΈΠΎΠΌΠ°Ρ€ΠΊΠ΅Ρ€ΠΎΠ². Π Π°Π½Π΅Π΅ Π½Π°ΠΌΠΈ Π²Ρ‹ΠΏΠΎΠ»Π½Π΅Π½ΠΎ Π²Ρ‹ΡΠΎΠΊΠΎΠΏΡ€ΠΎΠΈΠ·Π²ΠΎΠ΄ΠΈΡ‚Π΅Π»ΡŒΠ½ΠΎΠ΅ сСквСнированиС экзома 52 Π°Ρ€Ρ…ΠΈΠ²Π½Ρ‹Ρ… ΠΎΠ±Ρ€Π°Π·Ρ†ΠΎΠ² ΠšΠŸΠ“, ΠΎΠ΄Π½ΠΎΠΉ ΠΈΠ· Π·Π°Π΄Π°Ρ‡ ΠΊΠΎΡ‚ΠΎΡ€ΠΎΠ³ΠΎ Π±Ρ‹Π»Π° ΠΎΡ†Π΅Π½ΠΊΠ° ΠΌΡƒΡ‚Π°Ρ†ΠΈΠΎΠ½Π½ΠΎΠΉ Π½Π°Π³Ρ€ΡƒΠ·ΠΊΠΈ. Из-Π·Π° отсутствия ΠΏΠ°Ρ€Π½Ρ‹Ρ… ΠΎΠ±Ρ€Π°Π·Ρ†ΠΎΠ² гистологичСски Π½ΠΎΡ€ΠΌΠ°Π»ΡŒΠ½Ρ‹Ρ… Ρ‚ΠΊΠ°Π½Π΅ΠΉ ΠΈΠ»ΠΈ ΠΊΡ€ΠΎΠ²ΠΈ ΠΏΠΎΡ‚Π΅Π½Ρ†ΠΈΠ°Π»ΡŒΠ½ΠΎ Π³Π΅Ρ€ΠΌΠΈΠ½Π°Π»ΡŒΠ½Ρ‹Π΅ ΠΌΡƒΡ‚Π°Ρ†ΠΈΠΈ Π±Ρ‹Π»ΠΈ ΠΈΡΠΊΠ»ΡŽΡ‡Π΅Π½Ρ‹ ΠΈΠ· Π²Ρ‹Π±ΠΎΡ€ΠΊΠΈ с использованиСм Π±Π°Π· Π΄Π°Π½Π½Ρ‹Ρ… 1000 Genomes Project ΠΈ ExAC ΠΏΡ€ΠΈ строгих ΠΏΠ°Ρ€Π°ΠΌΠ΅Ρ‚Ρ€Π°Ρ… Ρ„ΠΈΠ»ΡŒΡ‚Ρ€Π°Ρ†ΠΈΠΈ. Π’ настоящСм исслСдовании ΠΏΡ€ΠΎΠ°Π½Π°Π»ΠΈΠ·ΠΈΡ€ΠΎΠ²Π°Π½Ρ‹ Π΄Π΅ΡΡΡ‚ΡŒ Π³Π΅Π½ΠΎΠ² (ZNF717, CDC27, FRG2C, FAM104B, CTBP2, HLA-DRB1, HYDIN, KMT5A, MUC3A ΠΈ PRSS3), Ρ…Π°Ρ€Π°ΠΊΡ‚Π΅Ρ€ΠΈΠ·ΡƒΡŽΡ‰ΠΈΡ…ΡΡ Π½Π°ΠΈΠ±ΠΎΠ»Π΅Π΅ высокой ΠΌΡƒΡ‚Π°Ρ†ΠΈΠΎΠ½Π½ΠΎΠΉ Π½Π°Π³Ρ€ΡƒΠ·ΠΊΠΎΠΉ. Π’ Ρ‡Π΅Ρ‚Ρ‹Ρ€Π΅Ρ… Π³Π΅Π½Π°Ρ… (CDC27, CTBP2, HYDIN ΠΈ KMT5A) ΠΈΠ΄Π΅Π½Ρ‚ΠΈΡ„ΠΈΡ†ΠΈΡ€ΠΎΠ²Π°Π½Ρ‹ ΠΏΠΎΡ‚Π΅Π½Ρ†ΠΈΠ°Π»ΡŒΠ½ΠΎ ΠΏΠ°Ρ‚ΠΎΠ³Π΅Π½Π½Ρ‹Π΅ ΠΌΡƒΡ‚Π°Ρ†ΠΈΠΈ, согласно нСскольким ΠΏΡ€Π΅Π΄ΡΠΊΠ°Π·Π°Ρ‚Π΅Π»ΡŒΠ½Ρ‹ΠΌ Π°Π»Π³ΠΎΡ€ΠΈΡ‚ΠΌΠ°ΠΌ (SIFT, PolyPhen-2, MutationTaster ΠΈ LRT). МногиС выявлСнныС ΠΌΡƒΡ‚Π°Ρ†ΠΈΠΈ оказались прСдставлСнными Π² большом количСствС ΠΎΠ±Ρ€Π°Π·Ρ†ΠΎΠ² Π²Ρ‹Π±ΠΎΡ€ΠΊΠΈ, Ρ‡Ρ‚ΠΎ заставило ΠΏΡ€ΠΎΠ²Π΅Ρ€ΠΈΡ‚ΡŒ ΠΈΡ… соматичСский статус с использованиСм Π΄ΠΎΠΏΠΎΠ»Π½ΠΈΡ‚Π΅Π»ΡŒΠ½Ρ‹Ρ… Π΄Π°Π½Π½Ρ‹Ρ… сСквСнирования экзома ΠΊΡ€ΠΎΠ²ΠΈ, Π²Ρ‹ΠΏΠΎΠ»Π½Π΅Π½Π½ΠΎΠ³ΠΎ с Ρ‚Π°ΠΊΠΈΠΌ ΠΆΠ΅ Π½Π°Π±ΠΎΡ€ΠΎΠΌ для экзомного обогащСния, ΠΊΠ°ΠΊ ΠΈ ΠΏΡ€ΠΈ Π°Π½Π°Π»ΠΈΠ·Π΅ ΠΎΠΏΡƒΡ…ΠΎΠ»Π΅ΠΉ ΠšΠŸΠ“. ΠžΠ±Π½Π°Ρ€ΡƒΠΆΠ΅Π½ΠΎ, Ρ‡Ρ‚ΠΎ Π·Π½Π°Ρ‡ΠΈΡ‚Π΅Π»ΡŒΠ½ΠΎΠ΅ число выявлСнных ΠΏΠΎΡ‚Π΅Π½Ρ†ΠΈΠ°Π»ΡŒΠ½ΠΎ ΠΏΠ°Ρ‚ΠΎΠ³Π΅Π½Π½Ρ‹Ρ… ΠΌΡƒΡ‚Π°Ρ†ΠΈΠΉ ΡΠ²Π»ΡΡŽΡ‚ΡΡ Π³Π΅Ρ€ΠΌΠΈΠ½Π°Π»ΡŒΠ½Ρ‹ΠΌΠΈ, Ρ‡Ρ‚ΠΎ, ΠΏΠΎ-Π²ΠΈΠ΄ΠΈΠΌΠΎΠΌΡƒ, связано с Π½Π°Π»ΠΈΡ‡ΠΈΠ΅ΠΌ ошибок Π°Π½Π½ΠΎΡ‚Π°Ρ†ΠΈΠΈ Π² Π±Π°Π·Π°Ρ… Π΄Π°Π½Π½Ρ‹Ρ… 1000 Genomes Project ΠΈ ExAC. Однако Ρ‡Π°ΡΡ‚ΡŒ ΠΈΠ΄Π΅Π½Ρ‚ΠΈΡ„ΠΈΡ†ΠΈΡ€ΠΎΠ²Π°Π½Π½Ρ‹Ρ… ΠΌΡƒΡ‚Π°Ρ†ΠΈΠΉ Π² Π³Π΅Π½Π°Ρ… CDC27, CTBP2, HYDIN ΠΈ KMT5A ΠΎΡΡ‚Π°ΡŽΡ‚ΡΡ ΠΏΡ€Π΅Π΄ΠΏΠΎΠ»ΠΎΠΆΠΈΡ‚Π΅Π»ΡŒΠ½ΠΎ ΠΏΠ°Ρ‚ΠΎΠ³Π΅Π½Π½Ρ‹ΠΌΠΈ, ΠΊΡ€ΠΎΠΌΠ΅ Ρ‚ΠΎΠ³ΠΎ, ΠΈΠΌΠ΅ΡŽΡ‚ΡΡ многочислСнныС Π΄Π°Π½Π½Ρ‹Π΅ ΠΎ вовлСчСнности этих Π³Π΅Π½ΠΎΠ² Π² Ρ„ΠΎΡ€ΠΌΠΈΡ€ΠΎΠ²Π°Π½ΠΈΠ΅ ΠΈ ΠΏΡ€ΠΎΠ³Ρ€Π΅ΡΡΠΈΡŽ Π΄Ρ€ΡƒΠ³ΠΈΡ… Π²ΠΈΠ΄ΠΎΠ² ΠΎΠΏΡƒΡ…ΠΎΠ»Π΅ΠΉ. Π­Ρ‚ΠΎ позволяСт ΡΡ‡ΠΈΡ‚Π°Ρ‚ΡŒ Π³Π΅Π½Ρ‹ CDC27, CTBP2, HYDIN ΠΈ KMT5A ΠΏΠΎΡ‚Π΅Π½Ρ†ΠΈΠ°Π»ΡŒΠ½ΠΎ связанными с ΠΏΠ°Ρ‚ΠΎΠ³Π΅Π½Π΅Π·ΠΎΠΌ ΠšΠŸΠ“ ΠΈ Ρ‚Ρ€Π΅Π±ΡƒΠ΅Ρ‚ ΠΎΠ±Ρ€Π°Ρ‚ΠΈΡ‚ΡŒ Π½Π° Π½ΠΈΡ… особоС Π²Π½ΠΈΠΌΠ°Π½ΠΈΠ΅ Π² Π΄Π°Π»ΡŒΠ½Π΅ΠΉΡˆΠΈΡ… исслСдованиях. Π’Π°ΠΊΠΈΠΌ ΠΎΠ±Ρ€Π°Π·ΠΎΠΌ, Π½Π΅ΠΎΠ±Ρ…ΠΎΠ΄ΠΈΠΌΠΎ ΡΠΎΠ²Π΅Ρ€ΡˆΠ΅Π½ΡΡ‚Π²ΠΎΠ²Π°Ρ‚ΡŒ ΠΌΠ΅Ρ‚ΠΎΠ΄ΠΈΠΊΠΈ для выявлСния ΠΎΠ½ΠΊΠΎ-ассоциированных Π³Π΅Π½ΠΎΠ² ΠΈ ΠΏΠ°Ρ‚ΠΎΠ³Π΅Π½Π½Ρ‹Ρ… ΠΌΡƒΡ‚Π°Ρ†ΠΈΠΉ

    Анализ ΠΌΡƒΡ‚Π°Ρ†ΠΈΠΉ Π² Π³Π΅Π½Π°Ρ… CDC27, CTBP2, HYDIN ΠΈ KMT5A ΠΏΡ€ΠΈ ΠΊΠ°Ρ€ΠΎΡ‚ΠΈΠ΄Π½Ρ‹Ρ… ΠΏΠ°Ρ€Π°Π³Π°Π½Π³Π»ΠΈΠΎΠΌΠ°Ρ…

    No full text
    Carotid paragangliomas (CPGLs) are rare neuroendocrine tumors that arise from paraganglionic tissue of the carotid body localizing at the bifurcation of carotid artery. These tumors are slowly growing, but occasionally they become aggressive and metastatic. Surgical treatment remains high-risk and extremely challenging; radiation and chemotherapy are poorly effective. The study of molecular pathogenesis of CPGLs will allow developing novel therapeutic approaches and revealing biomarkers. Previously, we performed the exome sequencing of 52 CPGLs and estimated mutational load (ML). Paired histologically normal tissues or blood were unavailable, so potentially germline mutations were excluded from the analysis with strong filtering conditions using 1000 Genomes Project and ExAC databases. In this work, ten genes (ZNF717, CDC27, FRG2C, FAM104B, CTBP2, HLA-DRB1, HYDIN, KMT5A, MUC3A, and PRSS3) characterized by the highest level of mutational load were analyzed. Using several prediction algorithms (SIFT, PolyPhen-2, MutationTaster, and LRT), potentially pathogenic mutations were identified in four genes (CDC27, CTBP2, HYDIN, and KMT5A). Many of these mutations occurred in the majority of cases, and their mutation type was checked using exome sequencing data of blood prepared with the same exome enrichment kit that was used for preparation of exome libraries from CPGLs. The majority of the mutations were germline that can apparently be associated with annotation errors in 1000 Genomes Project and ExAC. However, part of the mutations identified in CDC27, CTBP2, HYDIN, and KMT5A remain potentially pathogenic, and there is a large body of data on the involvement of these genes in the formation and progression of other tumors. This allows considering CDC27, CTBP2, HYDIN, and KMT5A genes as potentially associated with CPGL pathogenesis and requires taking them into account in further investigations. Thus, there is a necessity to improve the methods for identification of cancer-associated genes as well as pathogenic mutations.ΠšΠ°Ρ€ΠΎΡ‚ΠΈΠ΄Π½Ρ‹Π΅ ΠΏΠ°Ρ€Π°Π³Π°Π½Π³Π»ΠΈΠΎΠΌΡ‹ (ΠšΠŸΠ“) - Ρ€Π΅Π΄ΠΊΠΈΠ΅ нСйроэндокринныС ΠΎΠΏΡƒΡ…ΠΎΠ»ΠΈ, ΠΊΠΎΡ‚ΠΎΡ€Ρ‹Π΅ Ρ€Π°Π·Π²ΠΈΠ²Π°ΡŽΡ‚ΡΡ ΠΈΠ· ΠΏΠ°Ρ€Π°Π³Π°Π½Π³Π»ΠΈΠΎΠ½Π°Ρ€Π½ΠΎΠΉ Ρ‚ΠΊΠ°Π½ΠΈ ΠΊΠ°Ρ€ΠΎΡ‚ΠΈΠ΄Π½ΠΎΠ³ΠΎ Ρ‚Π΅Π»ΡŒΡ†Π° ΠΈ Ρ€Π°ΡΠΏΠΎΠ»Π°Π³Π°ΡŽΡ‚ΡΡ Π² области Π±ΠΈΡ„ΡƒΡ€ΠΊΠ°Ρ†ΠΈΠΈ сонной Π°Ρ€Ρ‚Π΅Ρ€ΠΈΠΈ. Π­Ρ‚ΠΈ ΠΎΠΏΡƒΡ…ΠΎΠ»ΠΈ Ρ…Π°Ρ€Π°ΠΊΡ‚Π΅Ρ€ΠΈΠ·ΡƒΡŽΡ‚ΡΡ ΠΌΠ΅Π΄Π»Π΅Π½Π½Ρ‹ΠΌ ростом, ΠΎΠ΄Π½Π°ΠΊΠΎ Π² рядС случаСв Π½Π°Π±Π»ΡŽΠ΄Π°Π΅Ρ‚ΡΡ агрСссивноС Ρ‚Π΅Ρ‡Π΅Π½ΠΈΠ΅ заболСвания ΠΈ мСтастазированиС. ΠžΠΏΠ΅Ρ€Π°Ρ†ΠΈΠΈ ΠΏΠΎ ΡƒΠ΄Π°Π»Π΅Π½ΠΈΡŽ ΠΊΠ°Ρ€ΠΎΡ‚ΠΈΠ΄Π½Ρ‹Ρ… ΠΏΠ°Ρ€Π°Π³Π°Π½Π³Π»ΠΈΠΎΠΌ сопряТСны с высоким риском ослоТнСний, Π² Ρ‚ΠΎ врСмя ΠΊΠ°ΠΊ лучСвая ΠΈ химиотСрапия малоэффСктивны. Π˜Π·ΡƒΡ‡Π΅Π½ΠΈΠ΅ молСкулярного ΠΏΠ°Ρ‚ΠΎΠ³Π΅Π½Π΅Π·Π° ΠšΠŸΠ“ ΠΌΠΎΠΆΠ΅Ρ‚ ΡΠΏΠΎΡΠΎΠ±ΡΡ‚Π²ΠΎΠ²Π°Ρ‚ΡŒ Ρ€Π°Π·Ρ€Π°Π±ΠΎΡ‚ΠΊΠ΅ Π½ΠΎΠ²Ρ‹Ρ… ΠΏΠΎΠ΄Ρ…ΠΎΠ΄ΠΎΠ² ΠΊ Ρ‚Π΅Ρ€Π°ΠΏΠΈΠΈ ΠΈ ΠΎΡ‚ΠΊΡ€Ρ‹Ρ‚ΠΈΡŽ Π±ΠΈΠΎΠΌΠ°Ρ€ΠΊΠ΅Ρ€ΠΎΠ². Π Π°Π½Π΅Π΅ Π½Π°ΠΌΠΈ Π²Ρ‹ΠΏΠΎΠ»Π½Π΅Π½ΠΎ Π²Ρ‹ΡΠΎΠΊΠΎΠΏΡ€ΠΎΠΈΠ·Π²ΠΎΠ΄ΠΈΡ‚Π΅Π»ΡŒΠ½ΠΎΠ΅ сСквСнированиС экзома 52 Π°Ρ€Ρ…ΠΈΠ²Π½Ρ‹Ρ… ΠΎΠ±Ρ€Π°Π·Ρ†ΠΎΠ² ΠšΠŸΠ“, ΠΎΠ΄Π½ΠΎΠΉ ΠΈΠ· Π·Π°Π΄Π°Ρ‡ ΠΊΠΎΡ‚ΠΎΡ€ΠΎΠ³ΠΎ Π±Ρ‹Π»Π° ΠΎΡ†Π΅Π½ΠΊΠ° ΠΌΡƒΡ‚Π°Ρ†ΠΈΠΎΠ½Π½ΠΎΠΉ Π½Π°Π³Ρ€ΡƒΠ·ΠΊΠΈ. Из-Π·Π° отсутствия ΠΏΠ°Ρ€Π½Ρ‹Ρ… ΠΎΠ±Ρ€Π°Π·Ρ†ΠΎΠ² гистологичСски Π½ΠΎΡ€ΠΌΠ°Π»ΡŒΠ½Ρ‹Ρ… Ρ‚ΠΊΠ°Π½Π΅ΠΉ ΠΈΠ»ΠΈ ΠΊΡ€ΠΎΠ²ΠΈ ΠΏΠΎΡ‚Π΅Π½Ρ†ΠΈΠ°Π»ΡŒΠ½ΠΎ Π³Π΅Ρ€ΠΌΠΈΠ½Π°Π»ΡŒΠ½Ρ‹Π΅ ΠΌΡƒΡ‚Π°Ρ†ΠΈΠΈ Π±Ρ‹Π»ΠΈ ΠΈΡΠΊΠ»ΡŽΡ‡Π΅Π½Ρ‹ ΠΈΠ· Π²Ρ‹Π±ΠΎΡ€ΠΊΠΈ с использованиСм Π±Π°Π· Π΄Π°Π½Π½Ρ‹Ρ… 1000 Genomes Project ΠΈ ExAC ΠΏΡ€ΠΈ строгих ΠΏΠ°Ρ€Π°ΠΌΠ΅Ρ‚Ρ€Π°Ρ… Ρ„ΠΈΠ»ΡŒΡ‚Ρ€Π°Ρ†ΠΈΠΈ. Π’ настоящСм исслСдовании ΠΏΡ€ΠΎΠ°Π½Π°Π»ΠΈΠ·ΠΈΡ€ΠΎΠ²Π°Π½Ρ‹ Π΄Π΅ΡΡΡ‚ΡŒ Π³Π΅Π½ΠΎΠ² (ZNF717, CDC27, FRG2C, FAM104B, CTBP2, HLA-DRB1, HYDIN, KMT5A, MUC3A ΠΈ PRSS3), Ρ…Π°Ρ€Π°ΠΊΡ‚Π΅Ρ€ΠΈΠ·ΡƒΡŽΡ‰ΠΈΡ…ΡΡ Π½Π°ΠΈΠ±ΠΎΠ»Π΅Π΅ высокой ΠΌΡƒΡ‚Π°Ρ†ΠΈΠΎΠ½Π½ΠΎΠΉ Π½Π°Π³Ρ€ΡƒΠ·ΠΊΠΎΠΉ. Π’ Ρ‡Π΅Ρ‚Ρ‹Ρ€Π΅Ρ… Π³Π΅Π½Π°Ρ… (CDC27, CTBP2, HYDIN ΠΈ KMT5A) ΠΈΠ΄Π΅Π½Ρ‚ΠΈΡ„ΠΈΡ†ΠΈΡ€ΠΎΠ²Π°Π½Ρ‹ ΠΏΠΎΡ‚Π΅Π½Ρ†ΠΈΠ°Π»ΡŒΠ½ΠΎ ΠΏΠ°Ρ‚ΠΎΠ³Π΅Π½Π½Ρ‹Π΅ ΠΌΡƒΡ‚Π°Ρ†ΠΈΠΈ, согласно нСскольким ΠΏΡ€Π΅Π΄ΡΠΊΠ°Π·Π°Ρ‚Π΅Π»ΡŒΠ½Ρ‹ΠΌ Π°Π»Π³ΠΎΡ€ΠΈΡ‚ΠΌΠ°ΠΌ (SIFT, PolyPhen-2, MutationTaster ΠΈ LRT). МногиС выявлСнныС ΠΌΡƒΡ‚Π°Ρ†ΠΈΠΈ оказались прСдставлСнными Π² большом количСствС ΠΎΠ±Ρ€Π°Π·Ρ†ΠΎΠ² Π²Ρ‹Π±ΠΎΡ€ΠΊΠΈ, Ρ‡Ρ‚ΠΎ заставило ΠΏΡ€ΠΎΠ²Π΅Ρ€ΠΈΡ‚ΡŒ ΠΈΡ… соматичСский статус с использованиСм Π΄ΠΎΠΏΠΎΠ»Π½ΠΈΡ‚Π΅Π»ΡŒΠ½Ρ‹Ρ… Π΄Π°Π½Π½Ρ‹Ρ… сСквСнирования экзома ΠΊΡ€ΠΎΠ²ΠΈ, Π²Ρ‹ΠΏΠΎΠ»Π½Π΅Π½Π½ΠΎΠ³ΠΎ с Ρ‚Π°ΠΊΠΈΠΌ ΠΆΠ΅ Π½Π°Π±ΠΎΡ€ΠΎΠΌ для экзомного обогащСния, ΠΊΠ°ΠΊ ΠΈ ΠΏΡ€ΠΈ Π°Π½Π°Π»ΠΈΠ·Π΅ ΠΎΠΏΡƒΡ…ΠΎΠ»Π΅ΠΉ ΠšΠŸΠ“. ΠžΠ±Π½Π°Ρ€ΡƒΠΆΠ΅Π½ΠΎ, Ρ‡Ρ‚ΠΎ Π·Π½Π°Ρ‡ΠΈΡ‚Π΅Π»ΡŒΠ½ΠΎΠ΅ число выявлСнных ΠΏΠΎΡ‚Π΅Π½Ρ†ΠΈΠ°Π»ΡŒΠ½ΠΎ ΠΏΠ°Ρ‚ΠΎΠ³Π΅Π½Π½Ρ‹Ρ… ΠΌΡƒΡ‚Π°Ρ†ΠΈΠΉ ΡΠ²Π»ΡΡŽΡ‚ΡΡ Π³Π΅Ρ€ΠΌΠΈΠ½Π°Π»ΡŒΠ½Ρ‹ΠΌΠΈ, Ρ‡Ρ‚ΠΎ, ΠΏΠΎ-Π²ΠΈΠ΄ΠΈΠΌΠΎΠΌΡƒ, связано с Π½Π°Π»ΠΈΡ‡ΠΈΠ΅ΠΌ ошибок Π°Π½Π½ΠΎΡ‚Π°Ρ†ΠΈΠΈ Π² Π±Π°Π·Π°Ρ… Π΄Π°Π½Π½Ρ‹Ρ… 1000 Genomes Project ΠΈ ExAC. Однако Ρ‡Π°ΡΡ‚ΡŒ ΠΈΠ΄Π΅Π½Ρ‚ΠΈΡ„ΠΈΡ†ΠΈΡ€ΠΎΠ²Π°Π½Π½Ρ‹Ρ… ΠΌΡƒΡ‚Π°Ρ†ΠΈΠΉ Π² Π³Π΅Π½Π°Ρ… CDC27, CTBP2, HYDIN ΠΈ KMT5A ΠΎΡΡ‚Π°ΡŽΡ‚ΡΡ ΠΏΡ€Π΅Π΄ΠΏΠΎΠ»ΠΎΠΆΠΈΡ‚Π΅Π»ΡŒΠ½ΠΎ ΠΏΠ°Ρ‚ΠΎΠ³Π΅Π½Π½Ρ‹ΠΌΠΈ, ΠΊΡ€ΠΎΠΌΠ΅ Ρ‚ΠΎΠ³ΠΎ, ΠΈΠΌΠ΅ΡŽΡ‚ΡΡ многочислСнныС Π΄Π°Π½Π½Ρ‹Π΅ ΠΎ вовлСчСнности этих Π³Π΅Π½ΠΎΠ² Π² Ρ„ΠΎΡ€ΠΌΠΈΡ€ΠΎΠ²Π°Π½ΠΈΠ΅ ΠΈ ΠΏΡ€ΠΎΠ³Ρ€Π΅ΡΡΠΈΡŽ Π΄Ρ€ΡƒΠ³ΠΈΡ… Π²ΠΈΠ΄ΠΎΠ² ΠΎΠΏΡƒΡ…ΠΎΠ»Π΅ΠΉ. Π­Ρ‚ΠΎ позволяСт ΡΡ‡ΠΈΡ‚Π°Ρ‚ΡŒ Π³Π΅Π½Ρ‹ CDC27, CTBP2, HYDIN ΠΈ KMT5A ΠΏΠΎΡ‚Π΅Π½Ρ†ΠΈΠ°Π»ΡŒΠ½ΠΎ связанными с ΠΏΠ°Ρ‚ΠΎΠ³Π΅Π½Π΅Π·ΠΎΠΌ ΠšΠŸΠ“ ΠΈ Ρ‚Ρ€Π΅Π±ΡƒΠ΅Ρ‚ ΠΎΠ±Ρ€Π°Ρ‚ΠΈΡ‚ΡŒ Π½Π° Π½ΠΈΡ… особоС Π²Π½ΠΈΠΌΠ°Π½ΠΈΠ΅ Π² Π΄Π°Π»ΡŒΠ½Π΅ΠΉΡˆΠΈΡ… исслСдованиях. Π’Π°ΠΊΠΈΠΌ ΠΎΠ±Ρ€Π°Π·ΠΎΠΌ, Π½Π΅ΠΎΠ±Ρ…ΠΎΠ΄ΠΈΠΌΠΎ ΡΠΎΠ²Π΅Ρ€ΡˆΠ΅Π½ΡΡ‚Π²ΠΎΠ²Π°Ρ‚ΡŒ ΠΌΠ΅Ρ‚ΠΎΠ΄ΠΈΠΊΠΈ для выявлСния ΠΎΠ½ΠΊΠΎ-ассоциированных Π³Π΅Π½ΠΎΠ² ΠΈ ΠΏΠ°Ρ‚ΠΎΠ³Π΅Π½Π½Ρ‹Ρ… ΠΌΡƒΡ‚Π°Ρ†ΠΈΠΉ
    corecore