Diagnòstic genètic preimplantacional mitjançant l'anàlisi del primer corpuscle polar: detecció d'aneuploidies, d'alteracions cromosòmiques estructurals i de mutacions en el gen CFTR

The Genetic Diagnosis Preimplantacional (DGP) by means of analysis of the first polar body (1CP) permits to analyze, indirectly, by means of oocyte maintaining all its reproductive capacity. The DGP-1CP arranges of to four days of analysis what supposes an advantage regarding the diagnosis in blastomers of embryos of 6-8 cells that alone arranges of two days. Inside a cycle of FIV embryos can be transfered originating in oocyte not pathological without needing the congealment of embryos. With the DGP-1CP alterations will be detected chromosomal numerical and structural in women of age advanced and portadoras of re-organization chromosomal minimizing the risk of descent with endowments chromosomal anomalous responsible for abortions, of viable pathological syndromes or of low rate of establishment. We have shown that the women of re-organization chromosomal present alterations of chromosomes implied and done not imply in the re-organization what does very adequate to analyze, besides the chromosomes implied in the re-organization, them implied more frequently in aneuploidías. For it we will apply the hybridization analysis methods in situ fluorescent (FISH) multiple for 9-11 chromosomes in to four you patrol of FISH and the method of Hybridization Genómica Compared (HGC) in remote 1CPs. With both methods we will obtain conclusive results with greater rapidity. With the DGP-1CP 31 mutations of the gene will be detected CFTR more frequent in Europe south and we will be able to obtain descent done not affect of Fibrosis quística of women portadoras. Applies the kit CF Assay of A. Biosystems. After a PEP of remote 1CP, we carry out a PCR múltiplex for 29 alelos. The kit contains 15 peers of cebadores that amplify fragments of DNA with said mutations. An enzima ties a probes normal or mutant with a probes common marked with fluorocromo (blue, green or yellow) that have hybridized with fragments of DNA diana.