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Гематология и трансфузиология

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Результаты комплексного анализа статуса гена ТР53 у больных диффузной В-крупноклеточной лимфомой

https://doi.org/10.18821/0234-5730-2016-61-3-138-143

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Аннотация

В настоящее время отсутствует комплексное описание изменчивости гена ТР53 при диффузной В-крупноклеточной лимфоме (В-ККЛ). В ходе проведенного исследования описаны частота, спектр и функциональная значимость мутаций в гене ТР53 у 74 больных диффузной В-ККЛ г. Новосибирска. Показано, что локализация «горячих точек» мутаций в обследованной выборке больных диффузной В-ККЛ отличалась от данных, представленных в IARC TP53 mutation database. Выявлено наличие при диффузной В-ККЛ патогенетически значимых интронных и сеймсенс-замен. Частота метилирования промотора ТР53 в группе исследования составила 5,8%. Потеря гетерозиготности в гене наблюдалась у 25% больных диффузной В-ККЛ и была отмечена только в подгруппе больных с измененным статусом ТР53 (мутации или метилирование промотора). Полученные результаты свидетельствуют, что при диффузной В-ККЛ происходит селекция функционально значимых мутаций в участках TP53, кодирующих ДНК-связывающий регион, а недостаточность функции данного гена может формироваться по двухударному принципу.

Об авторах

Е. Н. Воропаева
ФГБНУ НИИ терапии и профилактической медицины
Россия

Воропаева Елена Николаевна, кандидат мед. наук, старший научный сотрудник лаборатории молекулярно-генетических исследований терапевтических заболеваний 

630089, г. Новосибирск



Т. И. Поспелова
ГБОУ ВПО Новосибирский государственный медицинский университет Минздрава России
Россия
630089, г. Новосибирск


М. И. Воевода
ФГБНУ НИИ терапии и профилактической медицины
Россия
630089, г. Новосибирск


В. Н. Максимов
ФГБНУ НИИ терапии и профилактической медицины
Россия
630089, г. Новосибирск


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Для цитирования:


Воропаева Е.Н., Поспелова Т.И., Воевода М.И., Максимов В.Н. Результаты комплексного анализа статуса гена ТР53 у больных диффузной В-крупноклеточной лимфомой. Гематология и трансфузиология. 2016;61(3):138-143. https://doi.org/10.18821/0234-5730-2016-61-3-138-143

For citation:


Voropaeva E.N., Pospelova T.I., Voevoda M.I., Maksimov V.N. The results of complex analysis of TP53 gene status in patients with diffuse large cell lymphoma. Russian journal of hematology and transfusiology. 2016;61(3):138-143. (In Russ.) https://doi.org/10.18821/0234-5730-2016-61-3-138-143

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