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Forensic Evaluation of the Ion AmpliSeq MH-74 Microhaplotype Panel in the Portuguese Population

2026-05-29Artigo científico Acesso aberto
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dc.contributor.authorNascimento, Rui
dc.contributor.authorAfonso Costa, Heloísa
dc.contributor.authorCunha, Eugénia
dc.contributor.authorAmorim, António
dc.date.accessioned2026-06-15T13:21:47Z
dc.date.available2026-06-15T13:21:47Z
dc.date.issued2026-05-29
dc.description.abstractBackground/Objectives: Microhaplotypes have emerged as promising genetic markers for forensic applications, combining low mutation rates with high polymorphic information. However, population data remain limited for several regions, including Portugal. This study aimed to generate population data for the Ion AmpliSeq™ MH-74 panel in a Portuguese population and evaluate its performance for forensic identification and kinship analysis. Methods: A total of 237 unrelated individuals were genotyped using massively parallel sequencing on the Ion GeneStudio S5 platform. Allele frequencies and forensic parameters were estimated. Population structure was assessed using principal component analysis (PCA) based on reference data from MicroHapDB. Kinship performance was evaluated through simulations of full siblings, half siblings, and first cousins and compared with STR markers using likelihood ratios (LR) and error rates. Results: The MH-74 panel showed high genetic diversity (mean He = 0.615; mean PIC = 0.565) and strong forensic efficiency, with very high combined power of discrimination and exclusion and a random match probability of 3.86 × 10−55. PCA revealed clustering consistent with global population structure, with the Portuguese population grouping within European populations. Microhaplotypes produced higher log10(LR) values for related pairs compared to STRs, particularly for closer relationships, with lower false negative rates. Conclusions: The MH-74 panel demonstrates high discriminatory power and reliable performance for kinship analysis in the Portuguese population, supporting the use of microhaplotypes as an effective complement to STR markers in forensic genetics.eng
dc.description.sponsorshipThis research was funded by the National Institute of Legal Medicine and Forensic Sciences, Portugal.
dc.identifier.citationNascimento, R., Costa, H. A., Cunha, E., & Amorim, A. (2026). Forensic Evaluation of the Ion AmpliSeq MH-74 Microhaplotype Panel in the Portuguese Population. Genes, 17(6), 628.
dc.identifier.doi10.3390/genes17060628
dc.identifier.issn2073-4425
dc.identifier.urihttp://hdl.handle.net/10400.26/63592
dc.language.isoeng
dc.peerreviewedyes
dc.publisherMDPI AG
dc.relation.hasversionhttps://www.mdpi.com/2073-4425/17/6/628
dc.relation.ispartofGenes
dc.relation.ispartofseriesNovel Strategies in Forensic Genetics
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.subjectmicrohaplotypes
dc.subjectforensic genetics
dc.subjectmassively parallel sequencing
dc.subjectpopulation genetics
dc.subjectkinship analysis
dc.titleForensic Evaluation of the Ion AmpliSeq MH-74 Microhaplotype Panel in the Portuguese Populationeng
dc.typejournal article
dspace.entity.typePublication
oaire.citation.issue6
oaire.citation.titleGenes
oaire.citation.volume17
oaire.versionhttp://purl.org/coar/version/c_970fb48d4fbd8a85
person.familyNameCosta Marcos do Nascimento
person.familyNameAfonso Costa
person.familyNameCunha
person.familyNameAmorim
person.givenNameRui Francisco
person.givenNameHeloísa
person.givenNameEugénia
person.givenNameAntónio
person.identifierhttps://scholar.google.pt/citations?user=HSGHLA0AAAAJ&hl=en
person.identifier.ciencia-idCB1A-8B8D-78F1
person.identifier.ciencia-id331B-529A-08AE
person.identifier.ciencia-idE717-5464-E13B
person.identifier.orcid0000-0002-0478-336X
person.identifier.orcid0000-0002-7823-7687
person.identifier.orcid0000-0003-2998-371X
person.identifier.orcid0000-0002-7506-4426
person.identifier.ridJ-5725-2015
person.identifier.ridA-4414-2013
person.identifier.scopus-author-id24729171700
person.identifier.scopus-author-id190305008042
person.identifier.scopus-author-id35253426400
relation.isAuthorOfPublication5b6e71fb-a163-4c95-b706-e3f3275ab76a
relation.isAuthorOfPublicatione75e9d2d-2282-46d8-a2cb-37b7edbb1156
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relation.isAuthorOfPublication71c1447c-fe17-438b-bba1-256e3abdb87a
relation.isAuthorOfPublication.latestForDiscoverye75e9d2d-2282-46d8-a2cb-37b7edbb1156

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