Х-сцепленная адренолейкодистрофия: клинико-биохимический и молекулярно-генетический анализ
Диссертация
Возможности лечения Х-АЛД помимо заместительной гормональной терапии НН невелики терапия препаратами жирных кислот («масло Лоренцо») не оправдала возлагавшихся на нее больших надежд, трансплантация костного мозга (ТКМ) при церебральных формах в части случаев дает эффект, но только в начале болезни Поэтому биохимическая и молекулярно-генетическая диагностика Х-АЛД, позволяющая выявлять больных… Читать ещё >
Содержание
- ГЛАВА I. ОБЗОР ЛИТЕРАТУРЫ
- 1. 1 История изучения Х-АЛД
- 1. 2. Фенотипическое разнообразие Х-АДД
- 1. 3 Эпидемиология и генеалогические данные
- 1. 4. Клинико-инструментальная диагностика Х-АЛД
- 1. 5. Биохимические основы и биохимическая диагностика Х-АЛД
- 1. 5. 1. Метаболизм ОДЦЖК и его нарушения при Х-АЛД
- 1. 1 История изучения Х-АЛД
- 2. Информативность биохимической диагностики
- 1. 6. Молекулярно-генетаческие основы и ДНК-диагностика Х-АЛД
- 1. 6. 1. Характеристика гена ABCD
- 1. 6. 2. Характеристика белка АЛДП
- 1. 6. 2. Мутации и полиморфизмы гена ABCD
- 1. 6. 3. Молекулярные механизмы патогенеза Х-АЛД
- 1. 6. Молекулярно-генетаческие основы и ДНК-диагностика Х-АЛД
- 1. 7. Лечение и генетическая профилактика Х-АЛД
- 2. 1. Общая характеристика пробандов и семей с Х-АЛД
- 2. 2. Биохимические методы исследования
- 2. 2. 1. Получение культур кожных фибробластов
- 2. 2. 2. Исследование метаболизма ОДЦЖК в плазме крови
- 2. 3 Молекулярно-генетические методы исследования
- 2. 3. 1. Выделение геномной ДНК
- 2. 3. 2. Метод полимеразной цепной реакции (ПЦР) 44 2.3 3 Метод SSCP-анализа
- 2. 3. 4. Определение нуклеотидной последовательности ДНК
- 2. 3. 5. Анализ полиморфизма длины рестрикционных фрагментов (ПДРФ) 46 2.3.5. Электрофорез в полиакриламидном геле (ПААГ)
- 2. 4 Методы статистической обработки
- 3. 1 Кпинико-генеалогические характеристики Х-АЛД
- 3. 1 1 Генеалогические характеристики и распределение фенотипов
- 3. 1 2 Церебральные формы Х-АЛД
- 3. 1 3 Прочие фенотипы Х-АЛД
- 14. Изменения МРТ головного мозга у больных Х-АЛД
- 3. 2 Биохимическая диагностика Х-АЛД
- 3. 2. 2. Показатели метаболизма ОДЦЖК у больных и гетерозиготных носительниц
- 3. 2. 3. Анализ взаимосвязи клинических и биохимических параметров .72 3 3 ДНК-диагностика Х-АЛД
- 33. 1 Выявленные мутации в гене ABCDI
- 3. 3. 2. Выявленные полиморфизмы в гене ABCDI
- 3. 4 Обследование семей, алгоритм комплексной диагностики и генетической профилактики Х-АЛД
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