Biomics

Миотоническая дистрофия бывает двух типов (МД1 и МД2) и вызывается нарушением двух генов DMPK и ZNF9, в которых наблюдается экспансия GC-богатых простых повторов. В 3'-нетранслируемой области гена протеинкиназы мышечной дистрофии обнаруживаются множественные CTG/CAG-повторы, а в первом интроне гена, кодирующего ДНК-связывающий белок (ZNF9) имеются множественные CCTG/CAGG-повторы. Из-за возникающих в этих местах сложных вторичных структур затруднена диагностика числа данных повторов и необходимо использовать весьма трудоемкую и длительную процедуру блот-гибридизации по Саузерну. Однако для проведения более быстрой и дешевой диагностики с помощью ПЦР предлагаются различные вариации этого метода, способствующие установлению у пациентов заболевания на генетическом уровне или риска его развития с возрастом.

миотоническая дистрофия, наследственные болезни, экспансия простых повторов, CTG/CAG повторы, CCTG/CAGG-повторы, ПЦР

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