RT info:eu-repo/semantics/doctoralThesis
T1 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
A1 Velásquez Zapata, Valeria
A2 Universidad de Valladolid. Instituto de Biología y Genética Molecular (IBGM)
K1 Mamas - Cáncer - Diagnóstico
AB 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.
YR 2015
FD 2015
LK http://uvadoc.uva.es/handle/10324/13278
UL http://uvadoc.uva.es/handle/10324/13278
LA spa
DS UVaDOC
RD 03-may-2024