Исследование однородительской дисомии и микросателлитной нестабильности при ранней эмбриональной гибели человека
Диссертация
Следует, однако, отметить, что молекулярно-генетический анализ семейного материала со спонтанно погибшими зародышами дал другую достаточно ценную информацию. В частности, при исследовании сегрегации хромосомы 19 в семье № 263 у абортуса была обнаружена потеря гетерозиготности по маркеру 198 601: у эмбриона присутствовал только один аллель, полученный от отца, при отсутствии аллеля матери. Такое… Читать ещё >
Содержание
- ГЛАВА1. ОБЗОР ЛИТЕРАТУРЫ
- 1. 1. ОНТОГЕНЕТИЧЕСКИЕ НАРУШЕНИЯ ПРИ РАННЕЙ ЭМБРИОНАЛЬНОЙ ГИБЕЛИ У ЧЕЛОВЕКА
- 1. 2. ФЕНОМЕН ГЕНОМНОГО ИМПРИНТИНГА
- 1. 2. 1. Импринтинг на уровне целого генома
- 1. 2. 2. Импринтированные участки генома
- 1. 2. 3. Эволюционное значение импринтинга
- 1. 3. ОДНОРОДИТЕЛЬСКАЯ ДИСОМИЯ
- 1. 3. 1. Механизмы формирования однородительской дисомии
- 1. 3. 2. Фенотипические последствия однородительской дисомии
- 1. 3. 3. Импринтированные районы генома человека
- 1. 3. 4. Клиническая значимость однородительской дисомии
- 1. 3. 5. Перспективы исследования однородительской дисомии у человека
- 1. 4. МИКРОСАТЕЛЛИТНАЯ НЕСТАБИЛЬНОСТ
- ГЛАВА 2. МАТЕРИАЛ И МЕТОДЫ
- 2. 1. МАТЕРИАЛ ИССЛЕДОВАНИЯ
- 2. 2. КУЛЬТИВИРОВАНИЕ ЭМБИОНАЛЬНЫХ ФИБРОБЛАСТОВ И ПОЛУЧЕНИЕ ХРОМОСОМНЫХ ПРЕПАРАТОВ
- 2. 3. ВЫДЕЛЕНИЕ ДНК
- 2. 4. ДНК-МАРКЕРЫ, ИСПОЛЬЗОВАННЫЕ ДЛЯ ОПРЕДЕЛЕНИЯ РОДИТЕЛЬСКОГО ПРОИСХОЖДЕНИЯ ХРОМОСОМ
- 2. 5. ПОЛИМЕРАЗНАЯ ЦЕПНАЯ РЕАКЦИЯ (ПЦР)
- 2. 6. ЭЛЕКТРОФОРЕЗ В ПОЛИАКРИЛАМИДНОМ ГЕЛЕ
- 2. 7. СТАТИСТИЧЕСКАЯ ОБРАБОТКА РЕЗУЛЬТАТОВ
- ГЛАВА 3. РЕЗУЛЬТАТЫ И ОБСУЖДЕНИЕ
- 3. 1. СТРУКТУРА ХРОМОСОМНЫХ НАРУШЕНИЙ ПРИ
- РАННЕЙ ЭМБРИОНАЛЬНОЙ ГИБЕЛИ
- 3. 2. ВЫБОР ПОЛИМОРФНЫХ ДНК-МАРКЕРОВ И АНАЛИЗ РОДИТЕЛЬСКОГО ПРОИСХОЖДЕНИЯ ХРОМОСОМ ПРИ РАННЕЙ ГИБЕЛИ ЭМБРИОНОВ ЧЕЛОВЕКА
- 3. 3. АНОМАЛИИ КАРИОТИПА, НЕ ОБНАРУЖЕННЫЕ ПРИ ЦИТОГЕНЕТИЧЕСКОМ АНАЛИЗЕ
- 3. 4. МИКРОСАТЕЛЛИТНАЯ НЕСТАБИЛЬНОСТЬ ПРИ РАННЕЙ ЭМБРИОНАЛЬНОЙ ГИБЕЛИ
- 3. 5. ЛОЖНОЕ ОТЦОВСТВО
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