Biopolym. Cell. 1990; 6(1):31-46.
Молекулярна гетерогенність спадкових хвороб людини та проблеми їх генної терапії
1Гайцхокі В. С.
  1. Інститут експериментальної медицини АМН СРСР
    Ленінград, СРСР

Abstract

Розглянуто сучасні уявлення щодо первинні механізми, які лежать в основі недостатності білків ? генних продуктів при низці моногенних спадкових захворювань. Проведено аналіз молекулярних основ генетичної та стенотипової гетерогенності моногенних хвороб, яка може бути обумовлена різноманітними внутрішньо- або позагенними мутаціями, що викликають повні чи часткові блокування експресії генів на різних рівнях цього складного і багатоступеневого процесу (порушення інформаційної специфічності кодуючих послідовностей гена, недостатність транскрипції, блокування дозрівання мРНК, трансляційна недостатність мРНК, генетично детерміновані блокування дозрівання і внутрішньоклітинного переміщення білків). Проблема генної терапії спадкових хвороб обговорюється у зв'язку з їхньою генетичною та фенотиповою гетерогенністю.

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