Mol. Hum. Reprod. Advance Access originally published online on April 11, 2006
Molecular Human Reproduction 2006 12(5):353-356; doi:10.1093/molehr/gal039
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PGD for dystrophin gene deletions using fluorescence in situ hybridization
1Department of Molecular Medicine and Surgery, Clinical Genetics Unit, Karolinska Institutet and 2Fertility Unit, Department of Obstetrics and Gynaecology, Karolinska University Hospital, Huddinge, Stockholm, Sweden
3 To whom correspondence should be addressed at: Department of Clinical Genetics, Karolinska University Hospital Solna, S-171 76 Stockholm, Sweden. E-mail: elisabeth.blennow{at}cmm.ki.se
Duchenne muscular dystrophy and Becker muscular dystrophy (DMD and BMD) are caused by mutations in the dystrophin gene (Xp21). In two-thirds of DMD/BMD cases, the mutation is a large deletion of one or several exons. We have established PGD for DMD/BMD using interphase fluorescence in situ hybridization (FISH) analysis on single nuclei from blastomeres for the detection of deletions of specific exons in the dystrophin gene. We performed PGD for two carrier females; one had a deletion of exons 45–50 (DMD), and the other had a deletion of exons 45–48 (BMD). An exon 45-specific probe was used in combination with probes for the X and Y centromeres. Using this straightforward approach, we can distinguish affected and unaffected male embryos as well as carrier female and normal female embryos. Three cycles were performed for each patient, which resulted in a pregnancy and the birth of a healthy girl. To the best of our knowledge, this approach for PGD has not been previously reported. The use of interphase FISH is an attractive alternative to sexing or PCR-based mutation detection for PGD patients with known deletions of the dystrophin gene.
Key words: Becker muscular dystrophy/Duchenne muscular dystrophy/dystrophin gene/fluorescence in situ hybridization/PGD
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