Article
Clinical application of preimplantation genetic diagnosis for cystic fibrosis.
Prenatal diagnosis - 1 Jul 2000
Goossens V, Sermon K, Lissens W, Vandervorst M, Vanderfaeillie A, De Rijcke M, De Vos A, Henderix P, Van De Velde H, Van Steirteghem A, Liebaers I
Abstract excerpt
Cystic fibrosis (CF) is an autosomal recessive disease characterized by obstruction and chronic infections of the respiratory tract and pancreatic insufficiency. The gene was cloned in 1989 and the most frequent mutation was shown to be the delta F508 mutation. During PGD, embryos obtained in vitro are checked for the presence or absence of the mutation, after which only embryos shown to be free of the mutation...
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