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Blood taken immediately after fatal resuscitation attempts yields higher quality DNA for genetic studies as compared to autopsy samples

BACKGROUND: The out-of-hospital cardiac arrest (OHCA) in the young may be associated with a genetic predisposition which is relevant even for genetic counseling of relatives. The identification of genetic variants depends on the availability of intact genomic DNA. DNA from autopsy may be not availab...

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Autores principales: Stanasiuk, Caroline, Milting, Hendrik, Homm, Sören, Persson, Jan, Holtz, Lars, Wittmer, Axel, Fox, Henrik, Laser, Thorsten, Knöll, Ralph, Pohl, Greta Marie, Paluszkiewicz, Lech, Jakob, Thomas, Bachmann-Mennenga, Bernd, Henzler, Dietrich, Grautoff, Steffen, Veit, Gunter, Klingel, Karin, Hori, Erika, Kellner, Udo, Karger, Bernd, Schlepper, Stefanie, Pfeiffer, Heidi, Gummert, Jan, Gärtner, Anna, Tiesmeier, Jens
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10421769/
https://www.ncbi.nlm.nih.gov/pubmed/36773088
http://dx.doi.org/10.1007/s00414-023-02966-7
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author Stanasiuk, Caroline
Milting, Hendrik
Homm, Sören
Persson, Jan
Holtz, Lars
Wittmer, Axel
Fox, Henrik
Laser, Thorsten
Knöll, Ralph
Pohl, Greta Marie
Paluszkiewicz, Lech
Jakob, Thomas
Bachmann-Mennenga, Bernd
Henzler, Dietrich
Grautoff, Steffen
Veit, Gunter
Klingel, Karin
Hori, Erika
Kellner, Udo
Karger, Bernd
Schlepper, Stefanie
Pfeiffer, Heidi
Gummert, Jan
Gärtner, Anna
Tiesmeier, Jens
author_facet Stanasiuk, Caroline
Milting, Hendrik
Homm, Sören
Persson, Jan
Holtz, Lars
Wittmer, Axel
Fox, Henrik
Laser, Thorsten
Knöll, Ralph
Pohl, Greta Marie
Paluszkiewicz, Lech
Jakob, Thomas
Bachmann-Mennenga, Bernd
Henzler, Dietrich
Grautoff, Steffen
Veit, Gunter
Klingel, Karin
Hori, Erika
Kellner, Udo
Karger, Bernd
Schlepper, Stefanie
Pfeiffer, Heidi
Gummert, Jan
Gärtner, Anna
Tiesmeier, Jens
author_sort Stanasiuk, Caroline
collection PubMed
description BACKGROUND: The out-of-hospital cardiac arrest (OHCA) in the young may be associated with a genetic predisposition which is relevant even for genetic counseling of relatives. The identification of genetic variants depends on the availability of intact genomic DNA. DNA from autopsy may be not available due to low autopsy frequencies or not suitable for high-throughput DNA sequencing (NGS). The emergency medical service (EMS) plays an important role to save biomaterial for subsequent molecular autopsy. It is not known whether the DNA integrity of samples collected by the EMS is better suited for NGS than autopsy specimens. MATERIAL AND METHODS: DNA integrity was analyzed by standardized protocols. Fourteen blood samples collected by the EMS and biomaterials from autopsy were compared. We collected 172 autopsy samples from different tissues and blood with postmortem intervals of 14–168 h. For comparison, DNA integrity derived from blood stored under experimental conditions was checked against autopsy blood after different time intervals. RESULTS: DNA integrity and extraction yield were higher in EMS blood compared to any autopsy tissue. DNA stability in autopsy specimens was highly variable and had unpredictable quality. In contrast, collecting blood samples by the EMS is feasible and delivered comparably the highest DNA integrity. CONCLUSIONS: Isolation yield and DNA integrity from blood samples collected by the EMS is superior in comparison to autopsy specimens. DNA from blood samples collected by the EMS on scene is stable at room temperature or even for days at 4 °C. We conclude that the EMS personnel should always save a blood sample of young fatal OHCA cases died on scene to enable subsequent genetic analysis. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s00414-023-02966-7.
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spelling pubmed-104217692023-08-13 Blood taken immediately after fatal resuscitation attempts yields higher quality DNA for genetic studies as compared to autopsy samples Stanasiuk, Caroline Milting, Hendrik Homm, Sören Persson, Jan Holtz, Lars Wittmer, Axel Fox, Henrik Laser, Thorsten Knöll, Ralph Pohl, Greta Marie Paluszkiewicz, Lech Jakob, Thomas Bachmann-Mennenga, Bernd Henzler, Dietrich Grautoff, Steffen Veit, Gunter Klingel, Karin Hori, Erika Kellner, Udo Karger, Bernd Schlepper, Stefanie Pfeiffer, Heidi Gummert, Jan Gärtner, Anna Tiesmeier, Jens Int J Legal Med Original Article BACKGROUND: The out-of-hospital cardiac arrest (OHCA) in the young may be associated with a genetic predisposition which is relevant even for genetic counseling of relatives. The identification of genetic variants depends on the availability of intact genomic DNA. DNA from autopsy may be not available due to low autopsy frequencies or not suitable for high-throughput DNA sequencing (NGS). The emergency medical service (EMS) plays an important role to save biomaterial for subsequent molecular autopsy. It is not known whether the DNA integrity of samples collected by the EMS is better suited for NGS than autopsy specimens. MATERIAL AND METHODS: DNA integrity was analyzed by standardized protocols. Fourteen blood samples collected by the EMS and biomaterials from autopsy were compared. We collected 172 autopsy samples from different tissues and blood with postmortem intervals of 14–168 h. For comparison, DNA integrity derived from blood stored under experimental conditions was checked against autopsy blood after different time intervals. RESULTS: DNA integrity and extraction yield were higher in EMS blood compared to any autopsy tissue. DNA stability in autopsy specimens was highly variable and had unpredictable quality. In contrast, collecting blood samples by the EMS is feasible and delivered comparably the highest DNA integrity. CONCLUSIONS: Isolation yield and DNA integrity from blood samples collected by the EMS is superior in comparison to autopsy specimens. DNA from blood samples collected by the EMS on scene is stable at room temperature or even for days at 4 °C. We conclude that the EMS personnel should always save a blood sample of young fatal OHCA cases died on scene to enable subsequent genetic analysis. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s00414-023-02966-7. Springer Berlin Heidelberg 2023-02-11 2023 /pmc/articles/PMC10421769/ /pubmed/36773088 http://dx.doi.org/10.1007/s00414-023-02966-7 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Original Article
Stanasiuk, Caroline
Milting, Hendrik
Homm, Sören
Persson, Jan
Holtz, Lars
Wittmer, Axel
Fox, Henrik
Laser, Thorsten
Knöll, Ralph
Pohl, Greta Marie
Paluszkiewicz, Lech
Jakob, Thomas
Bachmann-Mennenga, Bernd
Henzler, Dietrich
Grautoff, Steffen
Veit, Gunter
Klingel, Karin
Hori, Erika
Kellner, Udo
Karger, Bernd
Schlepper, Stefanie
Pfeiffer, Heidi
Gummert, Jan
Gärtner, Anna
Tiesmeier, Jens
Blood taken immediately after fatal resuscitation attempts yields higher quality DNA for genetic studies as compared to autopsy samples
title Blood taken immediately after fatal resuscitation attempts yields higher quality DNA for genetic studies as compared to autopsy samples
title_full Blood taken immediately after fatal resuscitation attempts yields higher quality DNA for genetic studies as compared to autopsy samples
title_fullStr Blood taken immediately after fatal resuscitation attempts yields higher quality DNA for genetic studies as compared to autopsy samples
title_full_unstemmed Blood taken immediately after fatal resuscitation attempts yields higher quality DNA for genetic studies as compared to autopsy samples
title_short Blood taken immediately after fatal resuscitation attempts yields higher quality DNA for genetic studies as compared to autopsy samples
title_sort blood taken immediately after fatal resuscitation attempts yields higher quality dna for genetic studies as compared to autopsy samples
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10421769/
https://www.ncbi.nlm.nih.gov/pubmed/36773088
http://dx.doi.org/10.1007/s00414-023-02966-7
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