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Mol. Hum. Reprod. Advance Access originally published online on December 10, 2004
Molecular Human Reproduction 2005 11(1):65-71; doi:10.1093/molehr/gah128
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Molecular Human Reproduction vol. 11 no. 1 © European Society of Human Reproduction and Embryology 2004; all rights reserved

PGD for autosomal dominant polycystic kidney disease type 1

M. De Rycke1,4, I. Georgiou3, K. Sermon1, W. Lissens1, P. Henderix2, H. Joris2, P. Platteau2, A. Van Steirteghem2 and I. Liebaers1

1Centre for Medical Genetics and 2Centre for Reproductive Medicine, University Hospital and Medical School, Dutch-speaking Brussels Free University, Laarbeeklaan, Brussels, Belgium and 3Laboratory of Reproductive Genetics, Department of Obstetrics and Gynecology, Medical School, University of Ioannina, Ioannina, Greece

4 To whom correspondence should be addressed at: Centre for Medical Genetics, Laarbeeklaan 101, 1090 Brussels, Belgium. Email: lgendrem{at}az.vub.ac.be

Autosomal dominant polycystic kidney disease (ADPKD) is primarily characterized by renal cysts and progression to renal failure. It is a genetically heterogeneous disease, with mutations in the PKD1 gene accounting for the majority of cases. Direct mutation detection for PKD1-linked ADPKD or type 1 is complicated by the large size and complex genomic structure of PKD1. This paper describes a microsatellite marker-based assay for PGD in couples at risk of transmitting ADPKD type 1. During PGD, genetic analysis is carried out on single blastomeres biopsied from preimplantation embryos obtained after IVF, and only embryos unaffected by the disease under investigation are selected for transfer. Single-cell genetic analysis relied on a fluorescent duplex-PCR of linked polymorphic markers followed by fragment length determination on an automated sequencer. The co-amplification of the intragenic KG8 and the extragenic D16S291 marker at the single-cell level was evaluated in pre-clinical tests on lymphoblasts and research blastomeres. The developed assay proved to be efficient (96.1% amplification) and accurate (1.4% allele drop-out and 4.3% contamination), and can be applied in all informative ADPKD type 1 couples. From five clinical cycles carried out for three couples, two pregnancies ensued, resulting in the birth of two healthy children.

Key words: dominant polycystic kidney disease/PGD


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