Análisis mutacional de marcadores STR en estudios de paternidad dentro de la población chilena en el Servicio Médico Legal.
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Date
2024
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Publisher
Universidad de Concepción
Abstract
La unidad de Genética Forense del Servicio Médico Legal realiza peritajes de paternidad mediante el análisis genético de un tipo de polimorfismo de ADN denominado Short Tandem Repeats (STR). Los STR son secuencias cortas de ADN muy variables y con elevadas tasas de mutación. En la población chilena, estas tasas se desconocen, siendo el objetivo de este estudio analizar el perfil genético de la población chilena a través de la observación de mutaciones en 15 loci STR, utilizando métodos estadísticos junto con un análisis del comportamiento mutacional de estos marcadores, con el propósito de no depender de las tasas mutacionales globales de la Association for the Advancement of Blood & Biotherapies. Todo esto mediante una recopilación de datos provenientes de la población chilena y la aplicación de cálculos estadísticos relacionados a la matemática Forense. Se analizaron 236 mutaciones de origen paterno de las cuales 230 fueron identificadas como mutaciones tipo slipp y 6 como indeterminadas en donde 143 mutaciones mostraron una tendencia hacia la ganancia, destacando aquellas de un solo salto y 93 hacia la pérdida de secuencias STR. A nivel poblacional los marcadores con más altas tasas de mutación fueron los loci FGA, vWA y D13S317, demostrándose en general que en los 15 loci analizados hubo una variación respecto a las tasas utilizadas actualmente de la base de datos global por la AABB.
The Forensic Genetics unit of the Legal Medical Service carries out paternity assessments through the genetic analysis of a type of DNA polymorphism called Short Tandem Repeats (STR). STRs are short DNA sequences that are highly variable and have high mutation rates. In the Chilean population, these rates are unknown, the objective of this study being to analyze the genetic profile of the Chilean population through the observation of mutations in 15 STR loci, using statistical methods together with an analysis of the mutational behavior of these markers, with the purpose of not depending on the global mutation rates of the Association for the Advancement of Blood & Biotherapies. All this through a collection of data from the Chilean population and the application of statistical calculations related to Forensic mathematics. 236 mutations of paternal origin were analyzed, of which 230 were identified as slip-type mutations and 6 as indeterminate, where 143 mutations showed a trend towards gain, highlighting those with a single jump and 93 towards the loss of STR sequences. At the population level, the markers with the highest mutation rates were the FGA, vWA and D13S317 loci, generally demonstrating that in the 15 loci analyzed there was a variation with respect to the rates currently used from the global database by the AABB.
The Forensic Genetics unit of the Legal Medical Service carries out paternity assessments through the genetic analysis of a type of DNA polymorphism called Short Tandem Repeats (STR). STRs are short DNA sequences that are highly variable and have high mutation rates. In the Chilean population, these rates are unknown, the objective of this study being to analyze the genetic profile of the Chilean population through the observation of mutations in 15 STR loci, using statistical methods together with an analysis of the mutational behavior of these markers, with the purpose of not depending on the global mutation rates of the Association for the Advancement of Blood & Biotherapies. All this through a collection of data from the Chilean population and the application of statistical calculations related to Forensic mathematics. 236 mutations of paternal origin were analyzed, of which 230 were identified as slip-type mutations and 6 as indeterminate, where 143 mutations showed a trend towards gain, highlighting those with a single jump and 93 towards the loss of STR sequences. At the population level, the markers with the highest mutation rates were the FGA, vWA and D13S317 loci, generally demonstrating that in the 15 loci analyzed there was a variation with respect to the rates currently used from the global database by the AABB.
Description
Tesis presentada para optar al título de Bioquímico/a.
Keywords
Paternidad, Polimorfismo (Genética), Adn (Huella genética), Población