Mutation rate of 12 X-STRs from investigator Argus X-12 kit in Argentine population

Autores
García, M. G.; Gusmão, L.; Catanesi, Cecilia Ines; Penacino, G.A.; Pinto, N.
Año de publicación
2017
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
The analysis of X-chromosomal markers can be important in different situations where the application of autosomal and Y- chromosomal STR markers are not sufficient to solve the cases. Currently, the Argentine population lacks a representative database on X-chromosomal markers, regarding allele and/or haplotype frequencies, and mutation rates. The absence of this information represents an important limitation for their routine use in laboratories, preventing the achievement of a quantitative, statistically supported evaluation. In order to estimate mutation rates for the twelve X-chromosomal markers included in the Argus X-12 kit, 345 father-daughter duos were genotyped. The samples were selected from all provinces of Argentina and the biological relationship of paternity was previously confirmed by the analysis of autosomal STR markers for all duos, for which likelihood ratios higher than 106 were achieved. A total of 21 mutations over 4140 allelic transmissions were observed at DXS7132, DXS10134, DXS10079, DXS10146, DXS10101, DXS10103, DXS10074, DXS10148 and DXS10135 loci. The overall X-STRmutation rate observed was 5.1 × 10−3 (95% CI, 3.1 × 10−3–7.7 × 10−3) and all the genotypic configurations were explainable by the gain or loss of a single repeat. Finally, it should be noted that the overall mutation rate observed in this work resulted higher in comparison with some other reports, likely due to only father-daughter duos had been considered. Indeed, these findings are in agreement with previous works suggesting higher mutation rates for males, due to the higher number of germ-line divisions they experience.
Fil: García, M. G.. Laboratorio MANLAB; Argentina
Fil: Gusmão, L.. Universidade Federal do Rio de Janeiro; Brasil. Universidad de Porto; Portugal
Fil: Catanesi, Cecilia Ines. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto Multidisciplinario de Biología Celular. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular. Universidad Nacional de La Plata. Instituto Multidisciplinario de Biología Celular; Argentina. Universidad Nacional de La Plata. Facultad de Ciencias Naturales y Museo; Argentina
Fil: Penacino, G.A.. Colegio Oficial de Farmacéuticos y Bioquímicos; Argentina. Fundación INGEN; Argentina
Fil: Pinto, N.. Universidad de Porto; Portugal
Materia
Mutation Rate
X-Chromosomal Markers
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/65718
Acceder
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oai_identifier_str oai:ri.conicet.gov.ar:11336/65718
network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling Mutation rate of 12 X-STRs from investigator Argus X-12 kit in Argentine populationGarcía, M. G.Gusmão, L.Catanesi, Cecilia InesPenacino, G.A.Pinto, N.Mutation RateX-Chromosomal Markershttps://purl.org/becyt/ford/1.6https://purl.org/becyt/ford/1The analysis of X-chromosomal markers can be important in different situations where the application of autosomal and Y- chromosomal STR markers are not sufficient to solve the cases. Currently, the Argentine population lacks a representative database on X-chromosomal markers, regarding allele and/or haplotype frequencies, and mutation rates. The absence of this information represents an important limitation for their routine use in laboratories, preventing the achievement of a quantitative, statistically supported evaluation. In order to estimate mutation rates for the twelve X-chromosomal markers included in the Argus X-12 kit, 345 father-daughter duos were genotyped. The samples were selected from all provinces of Argentina and the biological relationship of paternity was previously confirmed by the analysis of autosomal STR markers for all duos, for which likelihood ratios higher than 106 were achieved. A total of 21 mutations over 4140 allelic transmissions were observed at DXS7132, DXS10134, DXS10079, DXS10146, DXS10101, DXS10103, DXS10074, DXS10148 and DXS10135 loci. The overall X-STRmutation rate observed was 5.1 × 10−3 (95% CI, 3.1 × 10−3–7.7 × 10−3) and all the genotypic configurations were explainable by the gain or loss of a single repeat. Finally, it should be noted that the overall mutation rate observed in this work resulted higher in comparison with some other reports, likely due to only father-daughter duos had been considered. Indeed, these findings are in agreement with previous works suggesting higher mutation rates for males, due to the higher number of germ-line divisions they experience.Fil: García, M. G.. Laboratorio MANLAB; ArgentinaFil: Gusmão, L.. Universidade Federal do Rio de Janeiro; Brasil. Universidad de Porto; PortugalFil: Catanesi, Cecilia Ines. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto Multidisciplinario de Biología Celular. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular. Universidad Nacional de La Plata. Instituto Multidisciplinario de Biología Celular; Argentina. Universidad Nacional de La Plata. Facultad de Ciencias Naturales y Museo; ArgentinaFil: Penacino, G.A.. Colegio Oficial de Farmacéuticos y Bioquímicos; Argentina. Fundación INGEN; ArgentinaFil: Pinto, N.. Universidad de Porto; PortugalElsevier Science2017-12info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/65718García, M. G.; Gusmão, L.; Catanesi, Cecilia Ines; Penacino, G.A.; Pinto, N.; Mutation rate of 12 X-STRs from investigator Argus X-12 kit in Argentine population; Elsevier Science; Forensic Science International: Genetics Supplement Series; 6; 12-2017; e562-e5641875-175XCONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/doi/10.1016/j.fsigss.2017.09.219info:eu-repo/semantics/altIdentifier/url/https://www.sciencedirect.com/science/article/pii/S1875176817302007info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-29T09:41:18Zoai:ri.conicet.gov.ar:11336/65718instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-09-29 09:41:18.3CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Mutation rate of 12 X-STRs from investigator Argus X-12 kit in Argentine population
title Mutation rate of 12 X-STRs from investigator Argus X-12 kit in Argentine population
spellingShingle Mutation rate of 12 X-STRs from investigator Argus X-12 kit in Argentine population
García, M. G.
Mutation Rate
X-Chromosomal Markers
title_short Mutation rate of 12 X-STRs from investigator Argus X-12 kit in Argentine population
title_full Mutation rate of 12 X-STRs from investigator Argus X-12 kit in Argentine population
title_fullStr Mutation rate of 12 X-STRs from investigator Argus X-12 kit in Argentine population
title_full_unstemmed Mutation rate of 12 X-STRs from investigator Argus X-12 kit in Argentine population
title_sort Mutation rate of 12 X-STRs from investigator Argus X-12 kit in Argentine population
dc.creator.none.fl_str_mv García, M. G.
Gusmão, L.
Catanesi, Cecilia Ines
Penacino, G.A.
Pinto, N.
author García, M. G.
author_facet García, M. G.
Gusmão, L.
Catanesi, Cecilia Ines
Penacino, G.A.
Pinto, N.
author_role author
author2 Gusmão, L.
Catanesi, Cecilia Ines
Penacino, G.A.
Pinto, N.
author2_role author
author
author
author
dc.subject.none.fl_str_mv Mutation Rate
X-Chromosomal Markers
topic Mutation Rate
X-Chromosomal Markers
purl_subject.fl_str_mv https://purl.org/becyt/ford/1.6
https://purl.org/becyt/ford/1
dc.description.none.fl_txt_mv The analysis of X-chromosomal markers can be important in different situations where the application of autosomal and Y- chromosomal STR markers are not sufficient to solve the cases. Currently, the Argentine population lacks a representative database on X-chromosomal markers, regarding allele and/or haplotype frequencies, and mutation rates. The absence of this information represents an important limitation for their routine use in laboratories, preventing the achievement of a quantitative, statistically supported evaluation. In order to estimate mutation rates for the twelve X-chromosomal markers included in the Argus X-12 kit, 345 father-daughter duos were genotyped. The samples were selected from all provinces of Argentina and the biological relationship of paternity was previously confirmed by the analysis of autosomal STR markers for all duos, for which likelihood ratios higher than 106 were achieved. A total of 21 mutations over 4140 allelic transmissions were observed at DXS7132, DXS10134, DXS10079, DXS10146, DXS10101, DXS10103, DXS10074, DXS10148 and DXS10135 loci. The overall X-STRmutation rate observed was 5.1 × 10−3 (95% CI, 3.1 × 10−3–7.7 × 10−3) and all the genotypic configurations were explainable by the gain or loss of a single repeat. Finally, it should be noted that the overall mutation rate observed in this work resulted higher in comparison with some other reports, likely due to only father-daughter duos had been considered. Indeed, these findings are in agreement with previous works suggesting higher mutation rates for males, due to the higher number of germ-line divisions they experience.
Fil: García, M. G.. Laboratorio MANLAB; Argentina
Fil: Gusmão, L.. Universidade Federal do Rio de Janeiro; Brasil. Universidad de Porto; Portugal
Fil: Catanesi, Cecilia Ines. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto Multidisciplinario de Biología Celular. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular. Universidad Nacional de La Plata. Instituto Multidisciplinario de Biología Celular; Argentina. Universidad Nacional de La Plata. Facultad de Ciencias Naturales y Museo; Argentina
Fil: Penacino, G.A.. Colegio Oficial de Farmacéuticos y Bioquímicos; Argentina. Fundación INGEN; Argentina
Fil: Pinto, N.. Universidad de Porto; Portugal
description The analysis of X-chromosomal markers can be important in different situations where the application of autosomal and Y- chromosomal STR markers are not sufficient to solve the cases. Currently, the Argentine population lacks a representative database on X-chromosomal markers, regarding allele and/or haplotype frequencies, and mutation rates. The absence of this information represents an important limitation for their routine use in laboratories, preventing the achievement of a quantitative, statistically supported evaluation. In order to estimate mutation rates for the twelve X-chromosomal markers included in the Argus X-12 kit, 345 father-daughter duos were genotyped. The samples were selected from all provinces of Argentina and the biological relationship of paternity was previously confirmed by the analysis of autosomal STR markers for all duos, for which likelihood ratios higher than 106 were achieved. A total of 21 mutations over 4140 allelic transmissions were observed at DXS7132, DXS10134, DXS10079, DXS10146, DXS10101, DXS10103, DXS10074, DXS10148 and DXS10135 loci. The overall X-STRmutation rate observed was 5.1 × 10−3 (95% CI, 3.1 × 10−3–7.7 × 10−3) and all the genotypic configurations were explainable by the gain or loss of a single repeat. Finally, it should be noted that the overall mutation rate observed in this work resulted higher in comparison with some other reports, likely due to only father-daughter duos had been considered. Indeed, these findings are in agreement with previous works suggesting higher mutation rates for males, due to the higher number of germ-line divisions they experience.
publishDate 2017
dc.date.none.fl_str_mv 2017-12
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
http://purl.org/coar/resource_type/c_6501
info:ar-repo/semantics/articulo
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/11336/65718
García, M. G.; Gusmão, L.; Catanesi, Cecilia Ines; Penacino, G.A.; Pinto, N.; Mutation rate of 12 X-STRs from investigator Argus X-12 kit in Argentine population; Elsevier Science; Forensic Science International: Genetics Supplement Series; 6; 12-2017; e562-e564
1875-175X
CONICET Digital
CONICET
url http://hdl.handle.net/11336/65718
identifier_str_mv García, M. G.; Gusmão, L.; Catanesi, Cecilia Ines; Penacino, G.A.; Pinto, N.; Mutation rate of 12 X-STRs from investigator Argus X-12 kit in Argentine population; Elsevier Science; Forensic Science International: Genetics Supplement Series; 6; 12-2017; e562-e564
1875-175X
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/doi/10.1016/j.fsigss.2017.09.219
info:eu-repo/semantics/altIdentifier/url/https://www.sciencedirect.com/science/article/pii/S1875176817302007
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
application/pdf
dc.publisher.none.fl_str_mv Elsevier Science
publisher.none.fl_str_mv Elsevier Science
dc.source.none.fl_str_mv reponame:CONICET Digital (CONICET)
instname:Consejo Nacional de Investigaciones Científicas y Técnicas
reponame_str CONICET Digital (CONICET)
collection CONICET Digital (CONICET)
instname_str Consejo Nacional de Investigaciones Científicas y Técnicas
repository.name.fl_str_mv CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas
repository.mail.fl_str_mv dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar
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score 13.070432

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