Biopolym. Cell. 1994; 10(3-4):63-67.
Виявления нонсенс мутації W1282X у двох сім'ях
з високим ризиком муковісцидоза з України
- Київський державний інститут удосконалення лікарів
вул. Дорогожицька, 9, Київ, Україна, 04112
Abstract
Проведеними в Україні раніше дослідженнями спектра мутацій в гені ТРБМ серед ciмей з високим ризиком муковкцидоза встановлено, що найбільш розповсюдженою мутацією є делеція F508 (55%). Iнші вида мутацій (R553X, G551D, R334W та,
1677delTA) в сукупності складають 2,6 % від ycix мутантних алелів гена. Нами здійснено ДНК-аналіз 20-го екзона гена ТРБМ для 27 не ΔF5081 CF-хромосом. Методом рестрикційного аналізу вивчено продукт прямої ампліфікації ДНК з плям крові. В результата виявлено двох хворих з генотипом W1282X/ΔF508 та помірними клінічними
проявами муковюцидоза. Один пацієнт був еврейсько-українського походження, другий – російсько-українського. Мутацію W1282X потрібно брати до уваги при проведенні молекулярної діагностики муковісцидоза в Україні.
Повний текст: (PDF, російською)
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