Influència materna en la transmissió de síndromes cromosómics. Formes de prevenció i criopreservació

  • García Caldés, Montserrat (Principal Investigator)
  • Ignasi Roig Navarro (Scholar)
  • Baró Mariné, Francesc (Investigator)
  • Camats Tarruella, Nuria (Investigator)
  • Egozcue Cuixart, Josep (Investigator)
  • Márquez Guevara, Carmen (Investigator)

Project Details

Description

In the face of extrapolating male human gametogenesis data to oogenesis (time and particular sequence with reference to sex), in this project we try to deepen on the knowledge of:
a) chromosome synapsis and
b) possible existence of trisomic oocytes
The study will focus on chromosomes 13, 18 and 21, which are frequently involved in maternal aneuploidy in origin.
Obtained results will be complemented by advances in diagnosis, prognosis and/or therapeutics of the chromosomic syndromes studied (Patau, Edwards and Down Syndrome).
The methodology implies cytogenetic and cell biology techniques. Classic chromosome studies, performed using G and C Banding, will be completed by using molecular cytogenetic techniques, like wholechromosome painting (FISH) as well as immunocytochemistry, to visualize synaptonemal complexes from oocyte I in the prophase stage. We shall attempt to perform a quantitative and qualitative study with statistical significance from the obtained results after analyzing 500 prophase I oocytes per chromosome and sample (aims a and b). Simultaneously, we shall study each analysed chromosome in oocyte I from adult women (aim b). In this case a qualitative study will be carried out analysing the maximum number of oocytes, from the limited number of available samples, using M-FISH (Multi Fluorescence In Situ Hybridization). Cryopreservation and set-up of ovarian tissue-culture techniques, in which the proposed methodologies will be applied, will signify an improvement in the performance of the project and, at the same time, a greater independence, in the difficult and random process of obtaining analysable samples
StatusFinished
Effective start/end date16/05/0316/05/06

Funding

  • Instituto de Salud "Carlos III": €75,900.00

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