Desenvolupament de nous mètodes d'anàlisi genètic en el diagnòstic preimplantacional humà

Project Details


The aim of this study is the development and improvement of the genetic characterization in human preimplantation diagnosis. We intend: 1) To optimize the methods of genetic characterization of the preimplantation embryons using the gene amplification techniques through the Polymerase Chain Reaction (PCR) starting by one blastomere. 2) To analyze the tax of obtaining chromosome pairs involved in balanced rearrangements using FISH-painting techniques. We intend to develop a suitable method to detect any chromosome rearrangement in preimplantation stages. 3)To clinicaly use the developed techniques, to demonstrate their applicability, specially focusing on the use of PCR in gene defect diseases and the use of cytogenetics plus FISH techniques to detect human embryos carrying unbalanced translocations or other chromosome abnormalities. Aplicability and practical use of the expectes results in health are derived from the possibility of detecting human pre-embryos carrying certain genetic abnormalities. There are cases, like sex-linked deseases (mores than 2000 described), recesive autosomal diseases (chystic fibrosis, thalassemia, etc...) or couples carrying balanced chromosome translocations, where the risk of transmiting such abnormalities to the offpring is higher than 25%. The incidence of these disesases among the general population is variable, but in some cases it can even afford handicap the life quality of the affected and their families. In such cases the only solution to the problem of transmiting genetic diseases to the offspring obviously is the antenatal diagnosis. Using primplantation diagnosis we offer the possibility to avoid the transmission of the genetic disease avoiding the therapeutic abortion, because only the non-affected embryos will be transferred.
Effective start/end date7/07/987/07/01


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