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Population of Northern Portugal: study of genetic diversity and forensic parameters of 26 Y-STR markers

2026Artigo científico Acesso aberto
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datacite.subject.fosCiências Médicas::Outras Ciências Médicas
dc.contributor.authorMaia, Bárbara
dc.contributor.authorSouto, Luís
dc.contributor.authorFadoni, Jennifer
dc.contributor.authorCainé, Laura
dc.contributor.authorAmorim, António
dc.date.accessioned2026-02-05T14:38:37Z
dc.date.available2026-02-05T14:38:37Z
dc.date.issued2026
dc.description.abstractShort tandem repeats (STRs) are highly variable sequences present along the human genome, including the Y-chromosome. Y-STRs are exclusive to males, and the haplotypes they define are informative. Objectives: Twenty-six Y-STR loci were genotyped in 252 males from Northern Portugal to characterise Y-chromosome genetic variation using the Investigator Argus Y28 QS Kit. Methods: The kit mentioned was used to amplify male DNA samples, and capillary electrophoresis was used to analyze the fragments. Forensic parameters and haplotype diversity were computed, and samples’ haplogroups were predicted. A multidimensional scaling (MDS) plot was used to graphically represent the RST genetic distances, including reference populations. Results: A total of 250 different haplotypes were observed, including 248 unique ones, yielding a very high haplotype diversity (HD = 0.999) and discriminatory power (DP = 0.992). Haplogroup analysis indicated a predominance of R1b (58.7%), followed by E1b1b, I and J, pointing to a population history shaped by Mediterranean and North African gene flow. Comparative analysis between Portugal and 5 other populations showed greater genetic affinity with Spain and Italy, while revealing marked differentiation from Greece, Morocco, and former Portuguese colonies. Conclusions: The results confirm that the Northern Portuguese Population exhibits high Y-STR variability and robust forensic resolution. The dataset was submitted to the YHRD database, enhancing the representation of the Portuguese population and underscoring the value of the 26 locus panel for applications in forensic science, genealogy, and population genetics.eng
dc.identifier.citationMaia, B., Fadoni, J., Cainé, L., Souto, L., & Amorim, A. (2026). Population of Northern Portugal: Study of Genetic Diversity and Forensic Parameters of 26 Y-STR Markers. Genes, 17(1), 101. https://doi.org/10.3390/genes17010101
dc.identifier.doi10.3390/genes17010101
dc.identifier.issn2073-4425
dc.identifier.urihttp://hdl.handle.net/10400.26/61483
dc.language.isoeng
dc.peerreviewedyes
dc.publisherMDPI
dc.relationInvestigação financiada por Instituto Nacional de Medicina Legal e Ciências Forenses, Portugal.
dc.relation.hasversionhttps://www.mdpi.com/2073-4425/17/1/101
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.subjectNorthern Portugal
dc.subjectY-STR
dc.subjectY-chromosome
dc.subjectHaplogroups
dc.subjectPopulation Genetics
dc.subjectForensic Genetics
dc.subjectGenetic Diversity
dc.titlePopulation of Northern Portugal: study of genetic diversity and forensic parameters of 26 Y-STR markerseng
dc.typejournal article
dspace.entity.typePublication
oaire.citation.issue1
oaire.citation.startPage101
oaire.citation.titleGenes
oaire.citation.volume17
oaire.versionhttp://purl.org/coar/version/c_970fb48d4fbd8a85
person.familyNameFadoni
person.familyNameCainé
person.familyNameAmorim
person.givenNameJennifer
person.givenNameLaura
person.givenNameAntónio
person.identifierAAR-9087-2020
person.identifier.ciencia-id7715-6D9A-CB35
person.identifier.ciencia-id021A-33DD-869D
person.identifier.orcid0000-0002-7593-1059
person.identifier.orcid0000-0002-6542-4256
person.identifier.orcid0000-0002-7506-4426
person.identifier.ridA-4414-2013
person.identifier.scopus-author-id2311978
person.identifier.scopus-author-id35253426400
relation.isAuthorOfPublication3b4805b7-1f1b-4fcf-b159-875b8ec89084
relation.isAuthorOfPublication1a1e1ffc-1439-48f2-a4c3-359c66db3ad1
relation.isAuthorOfPublication71c1447c-fe17-438b-bba1-256e3abdb87a
relation.isAuthorOfPublication.latestForDiscovery3b4805b7-1f1b-4fcf-b159-875b8ec89084

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