Avenços en la diagnosi genètica preimplantacional i la seva aplicació clínica

  • Santalo Pedro, Josep (Principal Investigator)
  • Arjona Fernández, César (Scholar)
  • Gimenez Sevilla, Carles (Scholar)
  • Parriego Beltran, Monica (Scholar)
  • Pérez Gallés, Natalia (Scholar)
  • Spits , Claudia (Scholar)
  • Egozcue Cuixart, Josep (Investigator)
  • Ibáñez, Elena (Investigator)
  • Vidal Dominguez, Francesca (Investigator)

Project Details


The aim of this study is the development and improvement of new strategies for genetic characterization in human preimplantation diagnosis. We intented:The development of a new method for embryo biopsy, based on the use of a piezoelectric drilling micromanipulator, cheaper than a LASER and capable to avoid the exposition of the embryos to acid solutions that could compromise their viability. The development of new strategies for the analysis of genetic diseases based on DNA amplificaction from a single blastomere through PCR and the study of intragenic or closely related polymorfisms (STRs and RFLP), instead of the direct detection of the mutation. Using this strategy a polymorfic allelle, that previously has been associated to the mutated gene in the affected family, is analyzed; thus all different mutations can be followed in the offspring. Setting up the whole genome amplification (WGA) techinques in the biopsied cell, in order to get higher numbers of copies of the genome to be analyzed thus obtaining a more complete and accurate diagnosis. To establish new diagnostic strategies for an exhaustive cytogenetic screening of the biopsies to detect any chromosome unbalnace or rearrangement in preimplantation developmental stages.The use of the methodologies developed, in order to prove their applicability in real clinical cases. The utility in biomedicine of the expected results is derived from the possibility to detect human embryos putative carriers of genetic abnormalities, thus offering the opportunity to prevent the transmission of the genetic disease avoiding therapeutic abortion
Effective start/end date28/12/0127/12/04


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