Цитогенетическая характеристика и эпигенетические механизмы формирования хромосомного мозаицизма при нарушении эмбрионального развития человека
Диссертация
Известно, что 15−20% всех распознаваемых беременностей у человека сопровождаются гибелью эмбрионов в I триместре беременности (Кулешов, 1979; Norwitz et al., 2001). Важную роль в нарушении эмбриогенеза играют генетические факторы — около половины спонтанных абортусов имеют аномалии хромосомного набора (Назаренко, 1993; Griffin et al., 1997; Баранов, Кузнецова, 2007). Современные данные… Читать ещё >
Содержание
- Список сокращений
- ГЛАВА 1. ОБЗОР ЛИТЕРАТУРЫ
- 1. 1. Хромосомный мозаицизм: частота, распространение, типы, клиническое значение
- 1. 2. Мозаицизм в эмбриогенезе
- 1. 3. Механизмы формирования мозаицизма
- 1. 4. Молекулярные механизмы формирования числовых хромосомных нарушений в соматических клетках
- 1. 5. Эпигенетическая регуляция генома
- 1. 5. 1. Эпигенетическое репрограммирование в онтогенезе
- 1. 5. 2. Нарушение эпигенетической регуляции генов контроля клеточного цикла и ее связь с патологией
- 1. 6. Методы анализа метилирования ДНК
- ГЛАВА 2. МАТЕРИАЛ И МЕТОДЫ
- 2. 1. Материал исследования
- 2. 2. Приготовление препаратов некультивированных клеток цитотро-фобласта хориона
- 2. 3. Приготовление препаратов некультивированных клеток экстраэмбриональной мезодермы
- 2. 4. Выделение ДНК
- 2. 4. 1. Выделение плазмидной ДНК
- 2. 4. 2. Выделение ДНК из экстраэмбриональных тканей
- 2. 4. 3. Выделение ДИК из лимфоцитов периферической крови
- 2. 5. Флюоресцентная in situ гибридизация (FISH)
- 2. 5. 1. Получение центромероспецифичных ДНК-зондов
- 2. 5. 2. Постановка гибридизации
- 2. 5. 3. Детекция гибридизационных сигналов
- 2. 5. 4. Амплификация гибридизационных сигналов
- 2. 6. Методы анализа метилирования ДНК
- 2. 6. 1. Метилспецифичная ПЦР
- 2. 6. 2. Обработка ДНК CpG-метилазой
- 2. 6. 3. Анализ метилирования ДНК с помощью метилочипа «Infmium HumanMethylation27 BeadChip»
- 2. 7. Статистический анализ
- ГЛАВА 3. РЕЗУЛЬТАТЫ И ОБСУЖДЕНИЕ
- 3. 1. Молекулярно-цитогенетический анализ эмбрионов человека
- 3. 1. 1. Определение частоты спонтанной тетраплоидии в нативных экстраэмбриональных тканях
- 3. 1. 2. Молекулярно-цитогенетический анализ клеток экстраэмбриональных тканей спонтанных абортусов с диплоидно-тетраплоидным кариотипом, установленным при длительном культивировании in vitro
- 3. 1. 3. Молекулярно-цитогенетический анализ экстраэмбриональных тканей спонтанных абортусов с диплоидно-анеуплоидным мозаицизмом
- 3. 2. Изучение статуса метилирования генов контроля клеточного цикла
- 3. 2. 1. Оценка статуса метилирования генов контроля клеточного цикла P14ARF, RBI, MAD2, CHFR в плацентарных тканях зародышей человека
- 3. 2. 2. Анализ эпигенетического статуса генов регуляции клеточного цикла в плаценте эмбрионов человека с помощью метилочипа «Infinium HumanMethylation27 BeadChip»
- 3. 3. Модель возникновения мозаичных форм геномных мутаций и нарушений эпигенетической регуляции активности генов
- 3. 4. Определение роли эпимутаций генов клеточного цикла в возникновении хромосомного мозаицизма
- 3. 1. Молекулярно-цитогенетический анализ эмбрионов человека
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