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Registro Completo |
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Biblioteca(s): |
Embrapa Recursos Genéticos e Biotecnologia. |
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Data corrente: |
26/03/2025 |
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Data da última atualização: |
26/03/2025 |
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Tipo da produção científica: |
Artigo em Periódico Indexado |
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Autoria: |
GUSMÃO, L.; ANTÃO-SOUSA, S.; FAUSTINO, M.; ABOVICH, M. A.; AGUIRRE, D.; ALGHAFRI, R.; ALVES, C.; AMORIM, A.; ARÉVALO, C.; BALDASSARRI, L.; BARLETTA-CARRILLO, C.; BERARDI, G.; BOBILLO, C.; BORJAS, L.; BRAGANHOLI, D. F.; BREHM, A.; BUILES, J. J.; CAINÉ, L.; CARVALHO, E. F.; CARVALHO, M.; CATELLI, L.; CICARELLI, R. M. B.; CONTRERAS, A.; CORACH, D.; MARCO, F. G. di; DIEDERICHE, M. V.; DOMINGUES, P.; ESPINOZA, M.; FERNANDÉZ, J. M.; GARCÍA, M. G.; GARCÍA, O.; GAVIRIA, A.; GOMES, I.; GRATTAPAGLIA, D.; HENAO, J.; HERNANDEZ, A.; IBARRA, A. A.; LIMA, G.; MANTEROLA, I. M.; MARRERO, C.; MARTINS, J. A.; MENDOZA, L.; MOSQUERA, A.; NASCIMENTO, E. C.; ONOFRI, V.; PANCORBO, M. M.; PESTANO, J. J.; PLAZA, G.; PORTO, M. J.; POSADA, Y. C.; REBELO, M. L.; RIEGO, E.; RODENBUSCH, R.; RODRÍGUEZ, A.; RODRÍGUEZ, A.; SANCHEZ-DIZ, P.; SANTOS, S.; SIMÃO, F.; SIZA FUENTES, L. M.; SUMITA, D.; TOMAS, C.; TOSCANINI, U.; TRINDADE-FILHO, A.; TURCHI, C.; VULLO, C.; YURREBASO, I.; PEREIRA, V.; PINTO, N. |
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Afiliação: |
L. GUSMÃO, STATE UNIVERSITY OF RIO DE JANEIRO (UERJ); S. ANTÃO-SOUSA, INSTITUTO DE PATOLOGIA E IMUNOLOGIA MOLECULAR DA UNIVERSIDADE DO PORTO (IPATIMUP); M. FAUSTINO, INSTITUTO DE INVESTIGAÇÃO E INOVAÇÃO EM SAÚDE (I3S); M. A. ABOVICH, BANCO NACIONAL DE DATOS GENÉTICOS; D. AGUIRRE, LABORATORIO GENES SAS; R. ALGHAFRI, DUBAI POLICE GENERAL HEAD QUARTERS; C. ALVES, INSTITUTO DE PATOLOGIA E IMUNOLOGIA MOLECULAR DA UNIVERSIDADE DO PORTO (IPATIMUP); A. AMORIM, INSTITUTO DE PATOLOGIA E IMUNOLOGIA MOLECULAR DA UNIVERSIDADE DO PORTO (IPATIMUP); C. ARÉVALO, COMISARÍA GENERAL DE POLICÍA CIENTÍFICA; L. BALDASSARRI, LABORATORIO DI GENETICA FORENSE DE LA UNIVERSITÀ CATTOLICA DEL SACRO CUORE DI ROMA; C. BARLETTA-CARRILLO, UNIVERSIDAD NACIONAL MAYOR DE SAN MARCOS; G. BERARDI, PRICAI - FUNDACIÓN FAVALORO; C. BOBILLO, UNIVERSIDAD DE BUENOS AIRES; L. BORJAS, UNIVERSIDAD DEL ZULIA; D. F. BRAGANHOLI, UNIVERSIDADE ESTADUAL PAULISTA (UNESP); A. BREHM, UNIVERSIDADE DA MADEIRA; J. J. BUILES, LABORATORIO GENES SAS; L. CAINÉ, INSTITUTO NACIONAL DE MEDICINA LEGAL E CIÊNCIAS FORENSES, I.P.; E. F. CARVALHO, TATE UNIVERSITY OF RIO DE JANEIRO (UERJ); M. CARVALHO, INSTITUTO NACIONAL DE MEDICINA LEGAL E CIÊNCIAS FORENSES, I.P.; L. CATELLI, ARGENTINEAN FORENSIC ANTHROPOLOGY TEAM (EAAF); R. M. B. CICARELLI, UNIVERSIDADE ESTADUAL PAULISTA (UNESP); A. CONTRERAS, LABORATORIO REGIONAL DE GENÉTICA FORENSE - PODER JUDICIAL DE RIO NEGRO; D. CORACH, UNIVERSIDAD DE BUENOS AIRES; F. G. DI MARCO, AREA DE FILIACIONES; M. V. DIEDERICHE, UNIVERSIDADE ESTADUAL DE SANTA CRUZ - UESC; P. DOMINGUES, STATE UNIVERSITY OF RIO DE JANEIRO (UERJ); M. ESPINOZA, UNIDAD DE GENÉTICA FORENSE; J. M. FERNANDÉZ, DIRECCIÓN GENERAL DE LA POLICÍA Y LA GUARDIA CIVIL; M. G. GARCÍA, LABORATORIO MANLAB, AREA DE FILIACIONES; O. GARCÍA, AREA DE LABORATORIO ERTZAINTZA; A. GAVIRIA, LABORATORIO DE GENÉTICA MOLECULAR AND HEMOCENTRO NACIONAL; I. GOMES, INSTITUTO DE PATOLOGIA E IMUNOLOGIA MOLECULAR DA UNIVERSIDADE DO PORTO (IPATIMUP); DARIO GRATTAPAGLIA, CENARGEN; J. HENAO, UNIVERSIDAD TECNOLÓGICA DE PEREIRA; A. HERNANDEZ, INSTITUTO NACIONAL DE TOXICOLOGÍA Y CIENCIAS FORENSES; A. A. IBARRA, UNIVERSIDAD DE ANTIOQUIA; G. LIMA, INSTITUTO NACIONAL DE MEDICINA LEGAL E CIÊNCIAS FORENSES, I.P.; I. M. MANTEROLA, UNIVERSIDAD DEL PAÍS VASCO (UPV-EHU); C. MARRERO, LABORATORIO GENOMIK C.A.; J. A. MARTINS, RESEARCH CENTRE FOR BIOCHEMISTRY AND MOLECULAR BIOLOGY AT THE MEDICAL SCHOOL OF SÃO JOSÉ DO RIO PRETO (FAMERP); L. MENDOZA, LABORATORIO GENES SAS; A. MOSQUERA, UNIVERSITY OF SANTIAGO DE COMPOSTELA; E. C. NASCIMENTO, DEPARTAMENTO DE POLÍCIA TÉCNICA DA BAHIA; V. ONOFRI, UNIVERSITARIA DELLE MARCHE; M. M. PANCORBO, UNIVERSIDAD DEL PAÍS VASCO (UPV/EHU); J. J. PESTANO, UNIVERSIDAD DE LAS PALMAS DE GRAN CANARIA; G. PLAZA, NEODIAGNOSTICA; M. J. PORTO, INSTITUTO NACIONAL DE MEDICINA LEGAL E CIÊNCIAS FORENSES, I.P.; Y. C. POSADA, UNIVERSIDAD DE ANTIOQUIA; M. L. REBELO, INSTITUTO NACIONAL DE MEDICINA LEGAL E CIÊNCIAS FORENSES, I.P.; E. RIEGO, UNIDAD DE PARENTESCO E IDENTIFICACIÓN HUMANA POR ADN; R. RODENBUSCH, LABORATÓRIO PERITOSLAB FORENSE; A. RODRÍGUEZ, UNIDAD DE GENÉTICA FORENSE; A. RODRÍGUEZ, UNIVERSITY OF SANTIAGO DE COMPOSTELA; P. SANCHEZ-DIZ, NASERTIC; S. SANTOS, FEDERAL UNIVERSITY OF PARÁ; F. SIMÃO, STATE UNIVERSITY OF RIO DE JANEIRO (UERJ); L. M. SIZA FUENTES, GENETICA MOLECULAR DE COLOMBIA LTDA; D. SUMITA, GENOMIC ENGENHARIA MOLECULAR LTDA.; C. TOMAS, UNIVERSITY OF COPENHAGEN; U. TOSCANINI, PRICAI - FUNDACIÓN FAVALORO; A. TRINDADE-FILHO, INSTITUTO DE PESQUISA DE DNA FORENSE – POLÍCIA CIVIL DO DISTRITO FEDERAL; C. TURCHI, POLYTECHNIC UNIVERSITY OF MARCHE; C. VULLO, ARGENTINEAN FORENSIC ANTHROPOLOGY TEAM (EAAF); I. YURREBASO, AREA DE LABORATORIO ERTZAINTZA; V. PEREIRA, UNIVERSITY OF COPENHAGEN; N. PINTO, INSTITUTO DE PATOLOGIA E IMUNOLOGIA MOLECULAR DA UNIVERSIDADE DO PORTO (IPATIMUP). |
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Título: |
X-chromosomal STRs: Metapopulations and mutation rates. |
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Ano de publicação: |
2025 |
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Fonte/Imprenta: |
Forensic Science International: Genetics, v. 76, 103232, 2025. |
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DOI: |
https://doi.org/10.1016/j.fsigen.2025.103232 |
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Idioma: |
Inglês |
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Conteúdo: |
The 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. MenosThe 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 lo... Mostrar Tudo |
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Palavras-Chave: |
Forensic genetics; Kinship analysis; Mutation rates; Population stratification; X-STRs. |
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Categoria do assunto: |
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Marc: |
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024 7 $ahttps://doi.org/10.1016/j.fsigen.2025.103232$2DOI
100 1 $aGUSMÃO, L.
245 $aX-chromosomal STRs$bMetapopulations and mutation rates.$h[electronic resource]
260 $c2025
520 $aThe 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.
653 $aForensic genetics
653 $aKinship analysis
653 $aMutation rates
653 $aPopulation stratification
653 $aX-STRs
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700 1 $aTURCHI, C.
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700 1 $aYURREBASO, I.
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700 1 $aPINTO, N.
773 $tForensic Science International: Genetics$gv. 76, 103232, 2025.
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