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Estudo de Novos Marcadores Genéticos SNPs de Identificação Humana com Tecnologia de NGS na População de Lisboa
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Resumo(s)
A Genética Forense tem desempenhado um papel fundamental na identificação humana, especialmente
em casos que envolvem amostras biológicas degradadas. Os Single Nucleotide Polymorphisms (SNPs)
têm emergido como marcadores genéticos essenciais nesta área, destacando-se pela sua aplicabilidade
em amostras complexas, devido à sua estabilidade, reduzido tamanho de amplicão e ampla distribuição
no genoma. O Precision ID Identity Panel surge como uma solução robusta para a tipagem de SNPs
multiplex, desenvolvido especificamente para a discriminação individual. Este painel é composto por
124 SNPs – 90 SNPs dos autossómicos e 34 SNPs do cromossoma Y –, sendo compatível com
tecnologias de sequenciação de nova geração (NGS). A introdução da NGS revolucionou a área forense
ao permitir a análise simultânea de múltiplos loci, reduzindo significativamente o tempo e os custos
laboratoriais.
Este estudo teve como objetivo determinar as frequências alélicas dos 90 SNPs autossómicos do
Precision ID Identity Panel, avaliar parâmetros populacionais e forenses e comparar os resultados
obtidos com populações publicadas.
Foram colhidas amostras de células da mucosa bucal de 119 indivíduos da população de Lisboa, sujeitas
a sequenciação NGS. As amostras foram analisadas através da plataforma Ion Torrent e a análise
estatística conduzida maioritariamente no software STRAF. Os resultados demonstraram a utilidade dos
SNPs como marcadores genéticos e revelaram o forte poder discriminativo do painel na identificação
individual e na caracterização populacional, reforçando a sua aplicabilidade forense. Adicionalmente,
evidenciaram uma proximidade genética entre as populações de Lisboa e do Brasil.
A integração da NGS na análise de SNPs representa um avanço significativo na genética forense,
permitindo investigações mais precisas, robustas e eficientes na identificação humana e nos estudos de
diversidade populacional.
Forensic Genetics has played a crucial role in human identification, particularly in cases involving degraded biological samples. Single Nucleotide Polymorphisms (SNPs) have emerged as essential genetic markers in this field, standing out for their applicability in complex samples, due to their stability, small amplicon size, and wide distribution across the genome. The Precision ID Identity Panel has proven to be a robust solution for multiplex SNP typing, specifically developed for individual discrimination. This panel consists of 124 SNPs—90 autosomal SNPs and 34 Y-chromosome SNPs— and is compatible with next-generation sequencing (NGS) technologies. The introduction of NGS has revolutionized the forensic field by enabling the simultaneous analysis of multiple loci, significantly reducing both processing time and laboratory costs. This study aimed to determine the allele frequencies of the 90 autosomal SNPs in the Precision ID Identity Panel, assess population and forensic parameters, and compare the obtained results with other published populations. Buccal mucosa cell samples were collected from 119 individuals from the Lisbon population and subjected to NGS sequencing. The samples were analyzed using the Ion Torrent platform, and statistical analysis was primarily conducted with the STRAF software. The results demonstrated the utility of SNPs as genetic markers and revealed the panel's strong discriminative power in individual identification and population characterization, reinforcing its forensic applicability. Additionally, the findings highlighted a genetic proximity between the Lisbon and Brazilian populations. The integration of NGS into SNP analysis represents a significant advancement in forensic genetics, enabling more precise, robust, and efficient investigations in human identification and population diversity studies.
Forensic Genetics has played a crucial role in human identification, particularly in cases involving degraded biological samples. Single Nucleotide Polymorphisms (SNPs) have emerged as essential genetic markers in this field, standing out for their applicability in complex samples, due to their stability, small amplicon size, and wide distribution across the genome. The Precision ID Identity Panel has proven to be a robust solution for multiplex SNP typing, specifically developed for individual discrimination. This panel consists of 124 SNPs—90 autosomal SNPs and 34 Y-chromosome SNPs— and is compatible with next-generation sequencing (NGS) technologies. The introduction of NGS has revolutionized the forensic field by enabling the simultaneous analysis of multiple loci, significantly reducing both processing time and laboratory costs. This study aimed to determine the allele frequencies of the 90 autosomal SNPs in the Precision ID Identity Panel, assess population and forensic parameters, and compare the obtained results with other published populations. Buccal mucosa cell samples were collected from 119 individuals from the Lisbon population and subjected to NGS sequencing. The samples were analyzed using the Ion Torrent platform, and statistical analysis was primarily conducted with the STRAF software. The results demonstrated the utility of SNPs as genetic markers and revealed the panel's strong discriminative power in individual identification and population characterization, reinforcing its forensic applicability. Additionally, the findings highlighted a genetic proximity between the Lisbon and Brazilian populations. The integration of NGS into SNP analysis represents a significant advancement in forensic genetics, enabling more precise, robust, and efficient investigations in human identification and population diversity studies.
Descrição
Tese de mestrado, Biologia Humana e Ambiente , 2025, Universidade de Lisboa, Faculdade de Ciências
Palavras-chave
Genética Forense Precision ID Identity Panel População de Lisboa Sequenciação de Nova Geração SNP Teses de mestrado - 2025