Mostrar el registro sencillo del ítem
dc.contributor.advisor | Velasco Sampedro, Eladio Andrés | es |
dc.contributor.author | Velásquez Zapata, Valeria | |
dc.contributor.editor | Universidad de Valladolid. Instituto de Biología y Genética Molecular (IBGM) | es |
dc.date.accessioned | 2015-08-31T09:21:26Z | |
dc.date.available | 2015-08-31T09:21:26Z | |
dc.date.issued | 2015 | |
dc.identifier.uri | http://uvadoc.uva.es/handle/10324/13278 | |
dc.description.abstract | We aim to assess exon 17 splicing variants involvement in the genetic susceptibility to HBOC, by a bioinformatic analysis and mRNA functional assays through a hybrid minigene strategy. 1) To select the candidate variants of the functional analysis based on a bioinformatic prediction, using online databases as BIC and algorithms as the presented on the Human Splicing Finder Database (HSF). 2) To construct and validate a wild type minigene that contains the 14-20 exons of BRCA2 and can be used as a vector of the functional analysis. 3) To generate each of the selected BRCA2 variants within the minigene. 4) To perform a functional analysis of the variants (driven in eukaryote cells), in order to evaluate its effect on the mRNA splicing. 5) To characterize the new-generated splicing patterns. 6) To contribute to the understanding of the HBOC genetic predisposition spectrum. | es |
dc.format.mimetype | application/pdf | es |
dc.language.iso | spa | es |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | es |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | |
dc.subject | Mamas - Cáncer - Diagnóstico | es |
dc.title | Splicing functional analysis of DNA variants within the breast cancer type 2 susceptibility gene (BRCA2), and its effect on hereditary breast and ovarian cancaer (HBOC): A hybrid minigene approach | es |
dc.type | info:eu-repo/semantics/doctoralThesis | es |
dc.description.degree | Máster en Investigación Biomédica | es |
dc.rights | Attribution-NonCommercial-NoDerivatives 4.0 International |
Ficheros en el ítem
Este ítem aparece en la(s) siguiente(s) colección(ones)
- Trabajos Fin de Máster UVa [6394]
La licencia del ítem se describe como Attribution-NonCommercial-NoDerivatives 4.0 International