Estudo de polimorfismos autosómicos e de cromosoma Y humanos con aplicacións en xenética forense e poboacional

Abstract

The present study aimed to analyze the possibilities of the two types of polymorphisms most frequently used in forensic and human population genetics: STR markers, which are short tandem repeats throughout the genome, and SNP markers, which are single nucleotide polymorphisms. The ability to multiplex these markers, their mutation rates and the ability to be analyzed using high-throughput technologies are studied, not only for forensic applications, analyzing DNA samples under extreme conditions, but also for applications in population genetics, analyzing various human populations. The possibilities of SNP markers to replace or complement microsatellites in forensic genetics are explored, as well as their contribution to understanding the evolutionary history of human populations.