Analysis of body fluid mixtures by mtDNA sequencing: An inter-laboratory study of the GEP-ISFG working group
- Autores
- Montesino, M.; Sala, Adriana Andrea; Crespillo, M.; Albarrán, C.; Alonso, A.; Álvarez Iglesias, V.; Cano, J. A.; Carvalho, M.; Corach, Daniel; Cruz, C.; Di Lonardo, A.; Espinheira, R.; Farfán, M. J.; Filippini, S.; García Hirschfeld, J.; Hernández, A.; Lima, G.; López Cubría, C. M.; López Soto, M.; Pagano, S.; Paredes, M.; Pinheiro, M. F.; RodríguezMonge, A. M.; Sala, A.; Sóñora, S.; Sumita, D. R.; Vide, M. C.; Whittle, M. R.; Zurita, A.; Prieto, L.
- Año de publicación
- 2007
- Idioma
- inglés
- Tipo de recurso
- artículo
- Estado
- versión publicada
- Descripción
- The mitochondrial DNA (mtDNA) working group of the GEP-ISFG (Spanish and Portuguese Group of the International Society for Forensic Genetics) carried out an inter-laboratory exercise consisting of the analysis of mtDNA sequencing patterns in mixed stains (saliva/semen and blood/semen). Mixtures were prepared with saliva or blood from a female donor and three different semen dilutions (pure, 1:10 and 1:20) in order to simulate forensic casework. All labs extracted the DNA by preferential lysis and amplified and sequenced the first mtDNA hypervariable region (HVS-I). Autosomal and Y-STR markers were also analysed in order to compare nuclear and mitochondrial results from the same DNA extracts. A mixed stain prepared using semen from a vasectomized individual was also analysed. The results were reasonably consistent among labs for the first fractions but not for the second ones, for which some laboratories reported contamination problems. In the first fractions, both the female and male haplotypes were generally detected in those samples prepared with undiluted semen. In contrast, most of the mixtures prepared with diluted semen only yielded the female haplotype, suggesting that the mtDNA copy number per cell is smaller in semen than in saliva or blood. Although the detection level of the male component decreased in accordance with the degree of semen dilution, it was found that the loss of signal was not consistently uniform throughout each electropherogram. Moreover, differences between mixtures prepared from different donors and different body fluids were also observed. We conclude that the particular characteristics of each mixed stain can deeply influence the interpretation of the mtDNA evidence in forensic mixtures (leading in some cases to false exclusions). In this sense, the implementation of preliminary tests with the aim of identifying the fluids involved in the mixture is an essential tool. In addition, in order to prevent incorrect conclusions in the interpretation of electropherograms we strongly recommend: (i) the use of additional sequencing primers to confirm the sequencing results and (ii) interpreting the results to the light of the phylogenetic perspective.
Fil: Montesino, M.. No especifíca;
Fil: Sala, Adriana Andrea. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: Crespillo, M.. Instituto Nacional de Toxicologia y Ciencias Forenses; España
Fil: Albarrán, C.. Instituto Nacional de Toxicologia y Ciencias Forenses; España
Fil: Alonso, A.. Universidad de Santiago de Compostela; España
Fil: Álvarez Iglesias, V.. No especifíca;
Fil: Cano, J. A.. No especifíca;
Fil: Carvalho, M.. No especifíca;
Fil: Corach, Daniel. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: Cruz, C.. No especifíca;
Fil: Di Lonardo, A.. No especifíca;
Fil: Espinheira, R.. No especifíca;
Fil: Farfán, M. J.. No especifíca;
Fil: Filippini, S.. No especifíca;
Fil: García Hirschfeld, J.. No especifíca;
Fil: Hernández, A.. No especifíca;
Fil: Lima, G.. No especifíca;
Fil: López Cubría, C. M.. No especifíca;
Fil: López Soto, M.. No especifíca;
Fil: Pagano, S.. No especifíca;
Fil: Paredes, M.. No especifíca;
Fil: Pinheiro, M. F.. No especifíca;
Fil: RodríguezMonge, A. M.. No especifíca;
Fil: Sala, A.. No especifíca;
Fil: Sóñora, S.. No especifíca;
Fil: Sumita, D. R.. No especifíca;
Fil: Vide, M. C.. No especifíca;
Fil: Whittle, M. R.. No especifíca;
Fil: Zurita, A.. No especifíca;
Fil: Prieto, L.. No especifíca; - Materia
-
HAPLOTYPE
HVS-I
MTDNA MIXTURE
MTDNA PHYLOGENY
PREFERENTIAL LYSIS
SEQUENCING - Nivel de accesibilidad
- acceso abierto
- Condiciones de uso
- https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
- Repositorio
- Institución
- Consejo Nacional de Investigaciones Científicas y Técnicas
- OAI Identificador
- oai:ri.conicet.gov.ar:11336/162437
Ver los metadatos del registro completo
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Analysis of body fluid mixtures by mtDNA sequencing: An inter-laboratory study of the GEP-ISFG working groupMontesino, M.Sala, Adriana AndreaCrespillo, M.Albarrán, C.Alonso, A.Álvarez Iglesias, V.Cano, J. A.Carvalho, M.Corach, DanielCruz, C.Di Lonardo, A.Espinheira, R.Farfán, M. J.Filippini, S.García Hirschfeld, J.Hernández, A.Lima, G.López Cubría, C. M.López Soto, M.Pagano, S.Paredes, M.Pinheiro, M. F.RodríguezMonge, A. M.Sala, A.Sóñora, S.Sumita, D. R.Vide, M. C.Whittle, M. R.Zurita, A.Prieto, L.HAPLOTYPEHVS-IMTDNA MIXTUREMTDNA PHYLOGENYPREFERENTIAL LYSISSEQUENCINGhttps://purl.org/becyt/ford/1.6https://purl.org/becyt/ford/1The mitochondrial DNA (mtDNA) working group of the GEP-ISFG (Spanish and Portuguese Group of the International Society for Forensic Genetics) carried out an inter-laboratory exercise consisting of the analysis of mtDNA sequencing patterns in mixed stains (saliva/semen and blood/semen). Mixtures were prepared with saliva or blood from a female donor and three different semen dilutions (pure, 1:10 and 1:20) in order to simulate forensic casework. All labs extracted the DNA by preferential lysis and amplified and sequenced the first mtDNA hypervariable region (HVS-I). Autosomal and Y-STR markers were also analysed in order to compare nuclear and mitochondrial results from the same DNA extracts. A mixed stain prepared using semen from a vasectomized individual was also analysed. The results were reasonably consistent among labs for the first fractions but not for the second ones, for which some laboratories reported contamination problems. In the first fractions, both the female and male haplotypes were generally detected in those samples prepared with undiluted semen. In contrast, most of the mixtures prepared with diluted semen only yielded the female haplotype, suggesting that the mtDNA copy number per cell is smaller in semen than in saliva or blood. Although the detection level of the male component decreased in accordance with the degree of semen dilution, it was found that the loss of signal was not consistently uniform throughout each electropherogram. Moreover, differences between mixtures prepared from different donors and different body fluids were also observed. We conclude that the particular characteristics of each mixed stain can deeply influence the interpretation of the mtDNA evidence in forensic mixtures (leading in some cases to false exclusions). In this sense, the implementation of preliminary tests with the aim of identifying the fluids involved in the mixture is an essential tool. In addition, in order to prevent incorrect conclusions in the interpretation of electropherograms we strongly recommend: (i) the use of additional sequencing primers to confirm the sequencing results and (ii) interpreting the results to the light of the phylogenetic perspective.Fil: Montesino, M.. No especifíca;Fil: Sala, Adriana Andrea. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Crespillo, M.. Instituto Nacional de Toxicologia y Ciencias Forenses; EspañaFil: Albarrán, C.. Instituto Nacional de Toxicologia y Ciencias Forenses; EspañaFil: Alonso, A.. Universidad de Santiago de Compostela; EspañaFil: Álvarez Iglesias, V.. No especifíca;Fil: Cano, J. A.. No especifíca;Fil: Carvalho, M.. No especifíca;Fil: Corach, Daniel. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Cruz, C.. No especifíca;Fil: Di Lonardo, A.. No especifíca;Fil: Espinheira, R.. No especifíca;Fil: Farfán, M. J.. No especifíca;Fil: Filippini, S.. No especifíca;Fil: García Hirschfeld, J.. No especifíca;Fil: Hernández, A.. No especifíca;Fil: Lima, G.. No especifíca;Fil: López Cubría, C. M.. No especifíca;Fil: López Soto, M.. No especifíca;Fil: Pagano, S.. No especifíca;Fil: Paredes, M.. No especifíca;Fil: Pinheiro, M. F.. No especifíca;Fil: RodríguezMonge, A. M.. No especifíca;Fil: Sala, A.. No especifíca;Fil: Sóñora, S.. No especifíca;Fil: Sumita, D. R.. No especifíca;Fil: Vide, M. C.. No especifíca;Fil: Whittle, M. R.. No especifíca;Fil: Zurita, A.. No especifíca;Fil: Prieto, L.. No especifíca;Elsevier Ireland2007-05info: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/11336/162437Montesino, M.; Sala, Adriana Andrea; Crespillo, M.; Albarrán, C.; Alonso, A.; et al.; Analysis of body fluid mixtures by mtDNA sequencing: An inter-laboratory study of the GEP-ISFG working group; Elsevier Ireland; Forensic Science International; 168; 1; 5-2007; 42-560379-0738CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/https://www.sciencedirect.com/science/article/abs/pii/S037907380600449Xinfo:eu-repo/semantics/altIdentifier/doi/10.1016/j.forsciint.2006.06.066info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-29T10:06:53Zoai:ri.conicet.gov.ar:11336/162437instacron: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 10:06:53.889CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse |
dc.title.none.fl_str_mv |
Analysis of body fluid mixtures by mtDNA sequencing: An inter-laboratory study of the GEP-ISFG working group |
title |
Analysis of body fluid mixtures by mtDNA sequencing: An inter-laboratory study of the GEP-ISFG working group |
spellingShingle |
Analysis of body fluid mixtures by mtDNA sequencing: An inter-laboratory study of the GEP-ISFG working group Montesino, M. HAPLOTYPE HVS-I MTDNA MIXTURE MTDNA PHYLOGENY PREFERENTIAL LYSIS SEQUENCING |
title_short |
Analysis of body fluid mixtures by mtDNA sequencing: An inter-laboratory study of the GEP-ISFG working group |
title_full |
Analysis of body fluid mixtures by mtDNA sequencing: An inter-laboratory study of the GEP-ISFG working group |
title_fullStr |
Analysis of body fluid mixtures by mtDNA sequencing: An inter-laboratory study of the GEP-ISFG working group |
title_full_unstemmed |
Analysis of body fluid mixtures by mtDNA sequencing: An inter-laboratory study of the GEP-ISFG working group |
title_sort |
Analysis of body fluid mixtures by mtDNA sequencing: An inter-laboratory study of the GEP-ISFG working group |
dc.creator.none.fl_str_mv |
Montesino, M. Sala, Adriana Andrea Crespillo, M. Albarrán, C. Alonso, A. Álvarez Iglesias, V. Cano, J. A. Carvalho, M. Corach, Daniel Cruz, C. Di Lonardo, A. Espinheira, R. Farfán, M. J. Filippini, S. García Hirschfeld, J. Hernández, A. Lima, G. López Cubría, C. M. López Soto, M. Pagano, S. Paredes, M. Pinheiro, M. F. RodríguezMonge, A. M. Sala, A. Sóñora, S. Sumita, D. R. Vide, M. C. Whittle, M. R. Zurita, A. Prieto, L. |
author |
Montesino, M. |
author_facet |
Montesino, M. Sala, Adriana Andrea Crespillo, M. Albarrán, C. Alonso, A. Álvarez Iglesias, V. Cano, J. A. Carvalho, M. Corach, Daniel Cruz, C. Di Lonardo, A. Espinheira, R. Farfán, M. J. Filippini, S. García Hirschfeld, J. Hernández, A. Lima, G. López Cubría, C. M. López Soto, M. Pagano, S. Paredes, M. Pinheiro, M. F. RodríguezMonge, A. M. Sala, A. Sóñora, S. Sumita, D. R. Vide, M. C. Whittle, M. R. Zurita, A. Prieto, L. |
author_role |
author |
author2 |
Sala, Adriana Andrea Crespillo, M. Albarrán, C. Alonso, A. Álvarez Iglesias, V. Cano, J. A. Carvalho, M. Corach, Daniel Cruz, C. Di Lonardo, A. Espinheira, R. Farfán, M. J. Filippini, S. García Hirschfeld, J. Hernández, A. Lima, G. López Cubría, C. M. López Soto, M. Pagano, S. Paredes, M. Pinheiro, M. F. RodríguezMonge, A. M. Sala, A. Sóñora, S. Sumita, D. R. Vide, M. C. Whittle, M. R. Zurita, A. Prieto, L. |
author2_role |
author author author author author author author author author author author author author author author author author author author author author author author author author author author author author |
dc.subject.none.fl_str_mv |
HAPLOTYPE HVS-I MTDNA MIXTURE MTDNA PHYLOGENY PREFERENTIAL LYSIS SEQUENCING |
topic |
HAPLOTYPE HVS-I MTDNA MIXTURE MTDNA PHYLOGENY PREFERENTIAL LYSIS SEQUENCING |
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 mitochondrial DNA (mtDNA) working group of the GEP-ISFG (Spanish and Portuguese Group of the International Society for Forensic Genetics) carried out an inter-laboratory exercise consisting of the analysis of mtDNA sequencing patterns in mixed stains (saliva/semen and blood/semen). Mixtures were prepared with saliva or blood from a female donor and three different semen dilutions (pure, 1:10 and 1:20) in order to simulate forensic casework. All labs extracted the DNA by preferential lysis and amplified and sequenced the first mtDNA hypervariable region (HVS-I). Autosomal and Y-STR markers were also analysed in order to compare nuclear and mitochondrial results from the same DNA extracts. A mixed stain prepared using semen from a vasectomized individual was also analysed. The results were reasonably consistent among labs for the first fractions but not for the second ones, for which some laboratories reported contamination problems. In the first fractions, both the female and male haplotypes were generally detected in those samples prepared with undiluted semen. In contrast, most of the mixtures prepared with diluted semen only yielded the female haplotype, suggesting that the mtDNA copy number per cell is smaller in semen than in saliva or blood. Although the detection level of the male component decreased in accordance with the degree of semen dilution, it was found that the loss of signal was not consistently uniform throughout each electropherogram. Moreover, differences between mixtures prepared from different donors and different body fluids were also observed. We conclude that the particular characteristics of each mixed stain can deeply influence the interpretation of the mtDNA evidence in forensic mixtures (leading in some cases to false exclusions). In this sense, the implementation of preliminary tests with the aim of identifying the fluids involved in the mixture is an essential tool. In addition, in order to prevent incorrect conclusions in the interpretation of electropherograms we strongly recommend: (i) the use of additional sequencing primers to confirm the sequencing results and (ii) interpreting the results to the light of the phylogenetic perspective. Fil: Montesino, M.. No especifíca; Fil: Sala, Adriana Andrea. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina Fil: Crespillo, M.. Instituto Nacional de Toxicologia y Ciencias Forenses; España Fil: Albarrán, C.. Instituto Nacional de Toxicologia y Ciencias Forenses; España Fil: Alonso, A.. Universidad de Santiago de Compostela; España Fil: Álvarez Iglesias, V.. No especifíca; Fil: Cano, J. A.. No especifíca; Fil: Carvalho, M.. No especifíca; Fil: Corach, Daniel. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina Fil: Cruz, C.. No especifíca; Fil: Di Lonardo, A.. No especifíca; Fil: Espinheira, R.. No especifíca; Fil: Farfán, M. J.. No especifíca; Fil: Filippini, S.. No especifíca; Fil: García Hirschfeld, J.. No especifíca; Fil: Hernández, A.. No especifíca; Fil: Lima, G.. No especifíca; Fil: López Cubría, C. M.. No especifíca; Fil: López Soto, M.. No especifíca; Fil: Pagano, S.. No especifíca; Fil: Paredes, M.. No especifíca; Fil: Pinheiro, M. F.. No especifíca; Fil: RodríguezMonge, A. M.. No especifíca; Fil: Sala, A.. No especifíca; Fil: Sóñora, S.. No especifíca; Fil: Sumita, D. R.. No especifíca; Fil: Vide, M. C.. No especifíca; Fil: Whittle, M. R.. No especifíca; Fil: Zurita, A.. No especifíca; Fil: Prieto, L.. No especifíca; |
description |
The mitochondrial DNA (mtDNA) working group of the GEP-ISFG (Spanish and Portuguese Group of the International Society for Forensic Genetics) carried out an inter-laboratory exercise consisting of the analysis of mtDNA sequencing patterns in mixed stains (saliva/semen and blood/semen). Mixtures were prepared with saliva or blood from a female donor and three different semen dilutions (pure, 1:10 and 1:20) in order to simulate forensic casework. All labs extracted the DNA by preferential lysis and amplified and sequenced the first mtDNA hypervariable region (HVS-I). Autosomal and Y-STR markers were also analysed in order to compare nuclear and mitochondrial results from the same DNA extracts. A mixed stain prepared using semen from a vasectomized individual was also analysed. The results were reasonably consistent among labs for the first fractions but not for the second ones, for which some laboratories reported contamination problems. In the first fractions, both the female and male haplotypes were generally detected in those samples prepared with undiluted semen. In contrast, most of the mixtures prepared with diluted semen only yielded the female haplotype, suggesting that the mtDNA copy number per cell is smaller in semen than in saliva or blood. Although the detection level of the male component decreased in accordance with the degree of semen dilution, it was found that the loss of signal was not consistently uniform throughout each electropherogram. Moreover, differences between mixtures prepared from different donors and different body fluids were also observed. We conclude that the particular characteristics of each mixed stain can deeply influence the interpretation of the mtDNA evidence in forensic mixtures (leading in some cases to false exclusions). In this sense, the implementation of preliminary tests with the aim of identifying the fluids involved in the mixture is an essential tool. In addition, in order to prevent incorrect conclusions in the interpretation of electropherograms we strongly recommend: (i) the use of additional sequencing primers to confirm the sequencing results and (ii) interpreting the results to the light of the phylogenetic perspective. |
publishDate |
2007 |
dc.date.none.fl_str_mv |
2007-05 |
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/11336/162437 Montesino, M.; Sala, Adriana Andrea; Crespillo, M.; Albarrán, C.; Alonso, A.; et al.; Analysis of body fluid mixtures by mtDNA sequencing: An inter-laboratory study of the GEP-ISFG working group; Elsevier Ireland; Forensic Science International; 168; 1; 5-2007; 42-56 0379-0738 CONICET Digital CONICET |
url |
http://hdl.handle.net/11336/162437 |
identifier_str_mv |
Montesino, M.; Sala, Adriana Andrea; Crespillo, M.; Albarrán, C.; Alonso, A.; et al.; Analysis of body fluid mixtures by mtDNA sequencing: An inter-laboratory study of the GEP-ISFG working group; Elsevier Ireland; Forensic Science International; 168; 1; 5-2007; 42-56 0379-0738 CONICET Digital CONICET |
dc.language.none.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
info:eu-repo/semantics/altIdentifier/url/https://www.sciencedirect.com/science/article/abs/pii/S037907380600449X info:eu-repo/semantics/altIdentifier/doi/10.1016/j.forsciint.2006.06.066 |
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 Ireland |
publisher.none.fl_str_mv |
Elsevier Ireland |
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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1844613922900934656 |
score |
13.070432 |