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X-chromosomal STRs: Metapopulations and mutation rates

2025Journal article Open access
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datacite.subject.fosCiências Médicas::Outras Ciências Médicas
dc.contributor.authorGusmão, L.
dc.contributor.authorAntão-Sousa, S.
dc.contributor.authorFaustino, M.
dc.contributor.authorAbovich, M.A.
dc.contributor.authorAguirre, D.
dc.contributor.authorAlghafri, R.
dc.contributor.authorAlves, C.
dc.contributor.authorAmorim, A.
dc.contributor.authorArévalo, C.
dc.contributor.authorBaldassarri, L.
dc.contributor.authorBarletta-Carrillo, C.
dc.contributor.authorBerardi, G.
dc.contributor.authorBobillo, C.
dc.contributor.authorBorjas, L.
dc.contributor.authorBraganholi, D.F.
dc.contributor.authorBrehm, A.
dc.contributor.authorBuiles J.J.
dc.contributor.authorCainé, L.
dc.contributor.authorCarvalho, E.F.
dc.contributor.authorCarvalho, M.
dc.contributor.authorCatelli, L.
dc.contributor.authorCicarelli, R.M.B.
dc.contributor.authorContreras, A.
dc.contributor.authorCorach, D.
dc.contributor.authorDi Marco, F.G.
dc.contributor.authorDiederiche, M.V.
dc.contributor.authorDomingues, P.
dc.contributor.authorEspinosa, M.
dc.contributor.authorFernandéz, J.M.
dc.contributor.authorGarcía, M.G.
dc.contributor.authorGarcía, O.
dc.contributor.authorGaviria, A.
dc.contributor.authorGomes, I.
dc.contributor.authorGrattapaglia, D.
dc.contributor.authorHenao, J.
dc.contributor.authorHernandez A.
dc.contributor.authorIbarra, A.A.
dc.contributor.authorLima, G.
dc.contributor.authorManterola, I.M.
dc.contributor.authorMarrero, C.
dc.contributor.authorMartins, J.A.
dc.contributor.authorMendoza, L.
dc.contributor.authorMosquera, A.
dc.contributor.authorNascimento, E.C.
dc.contributor.authorOnofri, V.
dc.contributor.authorPancorbo, M.M.
dc.contributor.authorPestano, J.J.
dc.contributor.authorPlaza, G.
dc.contributor.authorPorto, M.J.
dc.contributor.authorPosada, Y.C.
dc.contributor.authorRebelo, M.L.
dc.contributor.authorRiego, E.
dc.contributor.authorRodenbusch, R.
dc.contributor.authorRodríguez, A.
dc.contributor.authorRodríguez, A.
dc.contributor.authorSanchez-Diz, P.
dc.contributor.authorSantos, S.
dc.contributor.authorSimão, F.
dc.contributor.authorSiza Fuentes, L.M.
dc.contributor.authorSumita, D.
dc.contributor.authorTomas, C.
dc.contributor.authorToscanini, U.
dc.contributor.authorTrindade-Filho, A.
dc.contributor.authorTurchi, C.
dc.contributor.authorVullo, C.
dc.contributor.authorYurrebaso, I.
dc.contributor.authorPereira, V.
dc.contributor.authorPinto, N.
dc.contributor.authorCainé, Laura
dc.contributor.authorCarvalho, Mónica
dc.contributor.editorElsevier
dc.date.accessioned2026-01-05T11:19:29Z
dc.date.available2026-01-05T11:19:29Z
dc.date.issued2025
dc.description.abstractThe analysis of STRs located on the X chromosome has been one of the strategies used to address complex kinship cases. Its usefulness is, however, limited by the low availability of population haplotype frequency data and lack of knowledge on the probability of mutations. Due to the large amount of data required to obtain reliable estimates, it is important to investigate the possibility of grouping data from populations with similar profiles when calculating these parameters. To better understand the partition of genetic diversity among human populations for the X-STRs most used in forensics, an analysis was carried out based on data available in the literature and new data (23,949 haplotypes in total; from these 10,445 new) obtained through collaborative exercises within the Spanish and Portuguese Working Group of the International Society for Forensic Genetics. Based on the available population data, a similarity in X-STR profiles was found in European populations, and in East Asian populations, except for some isolates. A greater complexity was found for African, South American, and South and Southeast Asian populations, preventing their grouping into large metapopulations. New segregation data on 2273 father/mother/daughter trios were also obtained, aiming for a more thorough analysis of X-STR mutation rates. After combining our data with published information on father/mother/daughter trios, no mutations were detected in 13 out of 37 loci analyzed. For the remaining loci, mutation rates varied between 2.68 × 10-4 (DXS7133) and 1.07x10-2 (DXS10135), being 5.2 times higher in the male (4.16 ×10-3) than in the female (8.01 ×10-4) germline.eng
dc.identifier.citationGusmão L, Antão-Sousa S, Faustino M, Abovich MA, Aguirre D, Alghafri R, Alves C, Amorim A, Arévalo C, Baldassarri L, Barletta-Carrillo C, Berardi G, Bobillo C, Borjas L, Braganholi DF, Brehm A, Builes JJ, Cainé L, Carvalho EF, Carvalho M, Catelli L, Cicarelli RMB, Contreras A, Corach D, Di Marco FG, Diederiche MV, Domingues P, Espinoza M, Fernandéz JM, García MG, García O, Gaviria A, Gomes I, Grattapaglia D, Henao J, Hernandez A, Ibarra AA, Lima G, Manterola IM, Marrero C, Martins JA, Mendoza L, Mosquera A, Nascimento EC, Onofri V, Pancorbo MM, Pestano JJ, Plaza G, Porto MJ, Posada YC, Rebelo ML, Riego E, Rodenbusch R, Rodríguez A, Rodríguez A, Sanchez-Diz P, Santos S, Simão F, Siza Fuentes LM, Sumita D, Tomas C, Toscanini U, Trindade-Filho A, Turchi C, Vullo C, Yurrebaso I, Pereira V, Pinto N. X-chromosomal STRs: Metapopulations and mutation rates. Forensic Sci Int Genet. 2025 Mar;76:103232. doi: 10.1016/j.fsigen.2025.103232. Epub 2025 Jan 27.
dc.identifier.doi10.1016/j.fsigen.2025.103232
dc.identifier.issn1878-0326
dc.identifier.urihttp://hdl.handle.net/10400.26/60619
dc.language.isoeng
dc.peerreviewedyes
dc.publisherElsevier
dc.relationPOCI-01-0145-FEDER-007274
dc.relationNP (2022.04997.CEECIND)
dc.relationMF (2021.08783.BD)
dc.relation.hasversionhttps://doi.org/10.1016/j.fsigen.2025.103232
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.subjectForensic genetics
dc.subjectKinship analysis
dc.subjectPopulation stratification
dc.subjectMutation rates
dc.subjectX-STRs
dc.titleX-chromosomal STRs: Metapopulations and mutation rateseng
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage14
oaire.citation.startPage1
oaire.citation.titleForensic Science International: Genetics
oaire.citation.volume76
oaire.versionhttp://purl.org/coar/version/c_970fb48d4fbd8a85
person.familyNameCainé
person.familyNameCarvalho
person.givenNameLaura
person.givenNameMónica
person.identifierAAR-9087-2020
person.identifier.ciencia-id021A-33DD-869D
person.identifier.orcid0000-0002-6542-4256
person.identifier.orcid0000-0002-9195-5640
person.identifier.scopus-author-id2311978
person.identifier.scopus-author-id7201414007
relation.isAuthorOfPublication1a1e1ffc-1439-48f2-a4c3-359c66db3ad1
relation.isAuthorOfPublication25139469-58ba-46e0-97dd-ca821eb3297a
relation.isAuthorOfPublication.latestForDiscovery1a1e1ffc-1439-48f2-a4c3-359c66db3ad1

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