Спектр мутационных повреждений гена рецептора липопротеидов низкой плотности в популяции больных семейной гиперхолестеринемией г. Санкт-Петербурга
Диссертация
Методы классической генетики, и, прежде всего, генеалогический анализ, позволили прийти к заключению о важной роли наследственных факторов в генезе атеросклеротического поражения сосудов. Однако механизмы наследственной предрасположенности к развитию атеросклероза остаются недостаточно изученными. Холестериновая концепция атеросклероза была предложена H.H. Аничковым более 80 лет тому назад… Читать ещё >
Содержание
- СПИСОК СОКРАЩЕНИЙ
- ГЛАВА I. ЛИТЕРАТУРНЫЙ ОБЗОР-------------------------- б
- 1. 1. Семейная гиперхолестеринемия
- 1. 2. Структура рецептора ЛПНП
- 1. 3. Структура гена рецептора ЛПНП
- 1. 3. 1. Соотношение ген-белок
- 1. 3. 2. Транскрипционная регуляция гена рецептора ЛПНП
- 1. 3. 3. Полиморфизмы рецептора ЛПНП
- 1. 4. Сцепление мутационных дефектов РЛПНП с
- 1. 5. Классификация мутации в рецепторе ЛПНП
- 1. 6. Общая стратегия изучения СГ
- 1. 6. 1. Идентификация крупных перестроек в гене РЛПНП
- 1. 6. 2. Первичная идентификаций точечных мутаций
- 1. 6. 3. Молекулярный скрининг охарактеризованных мутаций в популяции
- II. 1. Материалы
- II. 2. Характеристика обследованных групп
- II. 3. Молекулярно-генетические методы
- 11. 3. 1. Выделение- ДНК из периферической крови
- 11. 3. 2. Полимеразная цепная реакция (ПЦР)
- 11. 3. 3. Анализ конформационного полиморфизма однонитевых фрагментов ДНК
- 11. 3. 4. Очистка ПЦР-фрагментов для секвенирования
- 11. 3. 5. Определение нуклеотидной последовательности ДНК по Сенгеру
- 11. 3. 6. Секвенирование с помощью специального набора (AmpliCycle™ sequencing kit)
- II. 3.7. Рестрикционный анализ
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