Molecular Human Reproduction, Vol. 9, No. 9, 559-567,
September 2003
© 2003 European Society of Human Reproduction and Embryology
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 
F508 mutation
Submitted on February 14, 2003; resubmitted on April 24, 2003. accepted on May 2, 2003
1 Centre for Medical Genetics and 2 Centre for Reproductive Medicine, University Hospital and Medical School, Dutch-speaking Brussels Free University, Laarbeeklaan 101, 1090 Brussels, Belgium
3 To whom correspondence should be addressed. e-mail: veerle.goossens{at}az.vub.ac.be
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. This is why a number of marker-based duplex PCRs were developed at the single cell level. A duplex PCR of a mutation and one or two microsatellites is not only a diagnostic tool, but it can also be used as a control for allele drop-out and contamination. During PGD, embryos obtained in vitro are analysed for the presence or absence of a particular genetic disease, after which only embryos shown to be free of this disease are returned to the mother. In total, 22 PGD cycles with duplex PCR (IVS8CA/IVS17BTA, 
F508/IVS8CA, F508/IVS17BTA and D7S486/D7S490) were carried out in 16 couples, which resulted in four ongoing pregnancies and one miscarriage.
Key words: cystic fibrosis/duplex PCR/preimplantation genetic diagnosis
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