Estudio de marcadores genéticos bialélicos para aplicaciones forenses : SNPs autosómicos e indels específicos de cromosoma X

ABSTRACT: The impact of molecular biology in sciences, and namely in what concerns the theme of this thesis (forensic sciences), has generated a large number of technical and theoretical developments. The application of molecular techniques to the basic sciences has always been followed by its application to forensic sciences, although the statistical principles for interpretation have remained without many variations. The subject of this thesis is inserted into the field of forensic genetics, and the main objective was to investigate the utility of new genetic markers that could be useful in certain forensic investigation scenarios, because of their molecular structure or inheritance pattern. The selection of genetic markers took into account the situation of Colombia regarding the forensic casework, in which a large number of cases cannot be solved through the use of conventional markers, such as STRs (short tandem repeats), alone. We chose to study SNP (single nucleotide polymorphism) autosomal biallelic markers, which have a molecular structure that facilitates their study on degraded samples, as well as Indel (insertion-deletion) markers located in the X chromosome, which may have advantages in some complex cases of affiliation over the autosomal markers used routinely, due to their mode of genetic transmission. With the aim stated above, a sampling was conducted in various departments of Colombia, including Huila, Arauca, Nariño (urban and native populations), Norte de Santander, Antioquia, Boyacá-Cundinamarca, Chocó, Santander, Casanare, Meta and the city of Cartagena (in the department of Bolivar). The samples obtained with informed consent of the participants for this study were genotyped using two sets of genetic markers: (1) the 52-Plex SNPforID, including 52 autosomal SNP markers; (2) and the 32 X-indels, consisting of 32 insertion deletion markers, located in X chromosome specific regions. Based on the genotypic results obtained, allele frequencies were calculated for all analyzed markers. These values were used to estimate genetic parameters of forensic interest. Furthermore, for the two studied groups of markers, population differentiation analyses were performed to evaluate whether the population was stratified and to determine the structure of a database representative of the Colombian populations for these markers…

• Autores: Ibarra Rodríguez, Adriana Alexandra
• Tipo de recurso: Doctoral thesis
• Fecha de publicación: 2015
• Institución: Universidad de Antioquia
• Repositorio: Repositorio UdeA
• Idioma: spa
• OAI Identifier: oai:bibliotecadigital.udea.edu.co:10495/3093
• Acceso en línea: http://hdl.handle.net/10495/3093
• Palabra clave: Parámetros genéticos; Genetic parameters; Biology; Biología; ADN; DNA; Marcadores genéticos; Genetic markers; Genetica forense; Cromosoma X; http://aims.fao.org/aos/agrovoc/c_24847; http://aims.fao.org/aos/agrovoc/c_925; http://aims.fao.org/aos/agrovoc/c_2347; http://aims.fao.org/aos/agrovoc/c_24030
• Rights: openAccess
• License: http://creativecommons.org/licenses/by-nc-nd/2.5/co/