A widely applicable strategy for single cell genotyping of beta-thalassaemia mutations using DGGE analysis: application to preimplantation genetic diagnosis.

@article{Vrettou1999AWA,
  title={A widely applicable strategy for single cell genotyping of beta-thalassaemia mutations using DGGE analysis: application to preimplantation genetic diagnosis.},
  author={Christina Vrettou and Glenn A. Palmer and Emmanuel Kanavakis and Maria Tzetis and Thalia Antoniadi and Minas Mastrominas and J Traeger-Synodinos},
  journal={Prenatal diagnosis},
  year={1999},
  volume={19 13},
  pages={1209-16}
}
Preimplantation genetic diagnosis (PGD) allows the selection of unaffected IVF embryos for transfer in couples that are at risk for transmitting genetic diseases. For monogenic diseases, polymerase chain reaction (PCR)-based diagnosis is usually performed on single blastomeres. In Greece, up to 10 per cent of the population are carriers for beta-thalassaemia and related haemoglobinopathies, and more than 20 pathological mutations in the beta-globin gene have been described. In this study we… CONTINUE READING

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