Biopolym. Cell. 2001; 17(4):319-324.
Биомедицина
Скрининг мутаций гена ТРБМ методом электрофореза в денатурирующем градиентном геле у пациентов с высоким риском муковисцидоза из Западного региона Украины
1Макух Г. В., 2Кочева С., 1Заставна Д. В., 1Корниенко Ю. О., 1Гнатейко О. З.
  1. Институт наследственной патологии АМН Украины
    ул. Н. Лысенко, 31а, Львов, ГСП-169, Украина, 79008
  2. Научно-исследовательский центр генной инженерии и биотехнологии Македонской академии наук и искусств
    2, Крсте Миширков бульвар, 1000 Скопье, Республика Македония

Abstract

В статье представлены результаты скрининга 60 ne-delF508 хромосом больных с высоким риском муковисцидоза (MB) из Западного региона Украины Методом электрофореза в дена­турирующем градиентном геле (DGGE) на наличие возможных аберраций проанализированы 15 экзонов гена ТРБМ. В обследованной группе установлены частоты идентифицирванных мутаиий: G542X (экзон 11) –3,7 %; W12S2X (экзон 20) – 3,4 %; N1303K (экзон 21) — 3,4 %. Кроме мутаций, установлены некоторые полиморфные варианты гена ТРБМ, которые могут быть информативными маркерами для пренатальной диагностики MB.

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