Article
Improving clinical preimplantation genetic diagnosis for cystic fibrosis by duplex PCR using two polymorphic markers or one polymorphic marker in combination with the detection of the DeltaF508 mutation.
Molecular human reproduction - 1 Sept 2003
Goossens V, Sermon K, Lissens W, De Rycke M, Saerens B, De Vos A, Henderix P, Van de Velde H, Platteau P, Van Steirteghem A, Devroey P, Liebaers I
Abstract excerpt
Cystic fibrosis (CF) is an autosomal recessive disease characterized by obstruction and chronic infection of the respiratory tract and pancreatic insufficiency. The first preimplantation genetic diagnosis (PGD) for CF was carried out in 1992. At our centre the first cycle was performed in 1993. However, the number of known CF mutations is >1000, so developing mutation-specific PCR protocols for PGD is unfeasible....
Topics
- Biopsy
- Blastomeres
- Cystic Fibrosis
- Female
- Genetic Markers
- Genetic Testing
- Heterozygote
- Humans
- Lymphocytes
- Male
- Mutation
- Polymerase Chain Reaction
- Polymorphism, Genetic