Diversidade e frequência haplotípica de X-STRS na população do Espírito Santo e sua contribuição para elucidação de casos forenses complexos

• Ano de defesa: 2023
• Autor(a) principal: Rodrigues, Fernanda Mariano Garcia de Souza
• Tipo de documento: Tese
• Tipo de acesso: Acesso aberto
• Idioma: por
• Instituição de defesa: Universidade Federal do Espírito Santo; BR; Doutorado em Biotecnologia; Centro de Ciências da Saúde; UFES; Programa de Pós-Graduação em Biotecnologia
• Palavras-chave em Português: Argus X-12; Frequência alélica; X-STRs Espírito Santo; X-STRs Brasil; subject.br-rjbn; Biotecnologia
• Link de acesso: http://repositorio.ufes.br/handle/10/16778

Genetic markers Short Tandem Repeats (STR) are the center of human genetic identification, STR markers on autosomal chromosomes and on the Y chromosome being the most used. However, in some forensic situations, such as cases of suspected incest, paternity without a maternal sample for comparison, traces with mixed DNA, the use of only these markers may not be enough to solve these cases. The study of STRs markers of the X sex chromosome (X-STRs) significantly increases the probability of identification by complementing the data obtained for autosomal and Y chromosome markers. Statistical analyzes that must be included in the issuance of expert reports. Thus, the general objective of this work is to carry out a macro-regional survey of the haplotype frequencies of 12 loci of X-STRs in Espírito Santo, to estimate the genetic diversity, the dynamics of populations and promote the gain of statistical power and the updating of this information in databases international data. In this sense, the survey of haplotype frequencies of X-STRs was carried out with a sample group of 571 unrelated individuals born in the 4 macro-regions of the state, in order to obtain a reliable estimate of the genetic diversity of ES. Analyzing the set of 12 XSTRs, no statistically significant differences were found between the macro regions of the state. The allele and haplotype frequencies found here have high rates of allelic and haplotype variability, demonstrating that this X-STR set is very informative in terms of individual discrimination, and may contribute to building knowledge and the importance of using the X chromosome in routine of laboratories that use DNA technology in human identification.