Biopolym. Cell. 2008; 24(1):60-68.
Біомедицина
Дослідження мутацій гена TGFBI у хворих на дистрофію строми рогівки, які проживають в Україні
1Пампуха В. М., 2Дрожжина Г. І., 1Лівшиць Л. А.
  1. Інститут молекулярної біології і генетики НАН України
    Вул. Академіка Заболотного, 150, Київ, Україна, 03680
  2. Державна установа «Інститут очних хвороб і тканинної терапії ім. В. П. Філатова НАМН України»
    Французький бульвар, 49/51, Одеса, Україна, 65061

Abstract

Проаналізовано мутації Arg124Cys (екзон 4), Thr538Arg, Ala546Thr, Arg555Thr, Arg55Gln (екзон 12), His626Arg (екзон 14) гена TGFBI з використанням методу полімеразної ланцюгової реакції з наступною рестрикцією у 91 пацієнта з різними формами дистрофії рогівки та 31 клінічно здорового індивіда з 49 неспоріднених родин. Отримані результати показують, що аналіз мутацій в гені TGFBI має важливе значення у диференційній діагностиці дистрофій рогівки з прогностичним і терапевтичним застосуванням, а також для генетичного консультування в родинах високого ризику.
Keywords: ген TGFBI, кератоепітелін, дистрофія рогівки

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