Biopolym. Cell. 2013; 29(4):330-338.
Обзоры
Исследование мутаций и реорганизаций в геноме человека – путь к выяснению патогенеза моногенных и мультифакторных заболеваний
1Лившиц Л. А., 1Кравченко С. А., 1Нечипоренко М. В., 1Пампуха В. Н., 1Грищенко Н. В., 1Лившиц А. Б., 1Соловьев А. А., 1Татарский П. Ф., 1Фесай О. А., 1Чернушин С. Ю., 1, 2Кучеренко А. М., 1, 2Гулковский Р. В.
  1. Институт молекулярной биологии и генетики НАН Украины
    ул. Академика Заболотного, 150, Киев, Украина, 03680
  2. Учебно-научный центр «Институт биологии»
    Киевского национального университета имени Тараса Шевченко
    ул. Владимирская, 64/13, Киев, Украина, 01601

Abstract

Обобщены результаты 25-летних исследований сотрудников отдела геномики человека ИМБиГ НАН Украины, направленных на выяснение молекулярно-генетической природы, спектра и происхождения в популяции Украины мутаций (генетических полиморфизмов) и реорганизаций в кодирующих и некодирующих участках генома человека. Установлена роль гетерогенности генома в патогенезе тяжелых моногенных и мультифакторных патологий. Получены данные о корреляции определенных мутаций генов-детерминаторов с фенотипическими проявлениями моногенных заболеваний, а также обсуждена роль генов-модификаторов в вариациях клинического фенотипа. Исследовано происхождение отдельных мутантных аллелей и установлены основные закономерности процессов поддержания их частоты в популяции Украины. Представлены данные об ассоциации некоторых полиморфных вариантов с бесплодием, сердечно-сосудистыми заболеваниями (ишемический инсульт), а также с массовыми инфекционными болезнями (гепатит С, СПИД) и показана эффективность стандартной терапии. Продемонстрированы первые результаты и перспективы новой стратегии поиска генов – маркеров нейродегенеративных заболеваний и интеллектуальной недееспособности за счет полногеномного скрининга геномных реорганизаций типа CNV.
Keywords: геномика человека, генотип, фенотип, генетический полиморфизм, генетический маркер

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