Myotonic dystrophy (DM), or Steinert's disease, is an autosomal dominant disease characterized by myotonia, muscular weakness and atrophy, as well as lens opacities, cardiomyopathy and mild endocrine changes. The gene for DM located on 19q contains a triplet repeat at the 3' end of the gene. In DM patients, this repeat is found to be expanded. We have previously described a preimplantation genetic diagnosis (PGD) for DM using polymerase chain reaction (PCR) followed by conventional analysis on ethidium bromide-stained gels. The major drawback of this system was that allelic dropout occurred in >20% of the cells, leading to the loss of healthy embryos for transfer. To resolve this problem, we developed a PGD for DM using fluorescent PCR followed by fragment analysis on an automated DNA sequencer and made a comparison between the conventional PCR described earlier and fluorescent PCR, which turned out to be superior in accuracy and efficiency. Three PGD cycles were performed using fluorescent PCR and are described here.

Original languageEnglish
Pages (from-to)791-796
Number of pages6
JournalMolecular Human Reproduction
Issue number8
Publication statusPublished - Aug 1998

    Research areas

  • Adult, Blastomeres, Female, Fluorescence, Humans, Lymphocytes, Male, Myotonic Dystrophy, Polymerase Chain Reaction, Pregnancy, Preimplantation Diagnosis

ID: 23875783