Skip to main content
Top
Published in: International Journal of Legal Medicine 6/2021

01-11-2021 | Original Article

Intra-bone nuclear DNA variability and STR typing success in Second World War first ribs

Authors: Laura Božič, Tajda Benedik Bevc, Eva Podovšovnik, Tomaž Zupanc, Irena Zupanič Pajnič

Published in: International Journal of Legal Medicine | Issue 6/2021

Login to get access

Abstract

DNA sampling and typing are used for identifying missing persons or war victims. In recent forensic studies, little focus has been placed on determining intra-bone variability within a single skeletal element. When dealing with aged human bones, complete skeletal remains are rarely present. In cases in which only the torso is available, studies have shown that ribs are one of the most appropriate samples, but intra-bone variability has not yet been studied. A higher degree of remodeling was found to contribute to higher DNA yield in the parts of the skeletal element where the most strain is concentrated. This study explores intra-bone variability in proximal, middle, and distal parts of the first human rib by determining the quantity and quality of DNA using the PowerQuant System (Promega) and autosomal STR typing success using the PowerPlex ESI 17 Fast System (Promega). Thirty first ribs from a single Second World War mass grave were sampled. No variation in DNA degradation was observed across the individual rib. The highest quantity of DNA was measured in the proximal part of the first rib, and in all ribs except three, full or almost full genetic profiles were obtained. Thus, when only the torso is present in archaeological or medico-legal cases, first ribs are recommended to be collected if possible, and the proximal or vertebral ends should be sampled for genetic analysis.
Appendix
Available only for authorised users
Literature
1.
go back to reference Emmons AL, Davoren J, DeBruyn JM, Mundorff AZ (2020) Inter and intra individual variation in skeletal DNA preservation in buried remains. Forensic Sci Int Genet. 44:102193CrossRef Emmons AL, Davoren J, DeBruyn JM, Mundorff AZ (2020) Inter and intra individual variation in skeletal DNA preservation in buried remains. Forensic Sci Int Genet. 44:102193CrossRef
2.
go back to reference Higgins D, Rohrlach AB, Kaidonis J, Townsend G, Austin JJ (2015) Differential nuclear and mitochondrial DNA preservation in post-mortem teeth with implications for forensic and ancient DNA studies. PLoS One. 10:e0126935CrossRef Higgins D, Rohrlach AB, Kaidonis J, Townsend G, Austin JJ (2015) Differential nuclear and mitochondrial DNA preservation in post-mortem teeth with implications for forensic and ancient DNA studies. PLoS One. 10:e0126935CrossRef
3.
go back to reference Ziętkiewicz E, Witt M, Daca P, Zebracka-Gala J, Goniewicz M, Jarzab B et al (2012) Current genetic methodologies in the identification of disaster victims and in forensic analysis. J Appl Genet 53:41–60CrossRef Ziętkiewicz E, Witt M, Daca P, Zebracka-Gala J, Goniewicz M, Jarzab B et al (2012) Current genetic methodologies in the identification of disaster victims and in forensic analysis. J Appl Genet 53:41–60CrossRef
4.
go back to reference Irwin JA, Just RS, Loreille OM, Parsons TJ (2012) Characterization of a modified amplification approach for improved STR recovery from severely degraded skeletal elements. Forensic Sci Int Genet 6:578–587CrossRef Irwin JA, Just RS, Loreille OM, Parsons TJ (2012) Characterization of a modified amplification approach for improved STR recovery from severely degraded skeletal elements. Forensic Sci Int Genet 6:578–587CrossRef
5.
go back to reference Amory S, Huel R, Bilić A, Loreille O, Parsons TJ (2012) Automatable full demineralization DNA extraction procedure from degraded skeletal remains. Forensic Sci Int Genet 6:398–406CrossRef Amory S, Huel R, Bilić A, Loreille O, Parsons TJ (2012) Automatable full demineralization DNA extraction procedure from degraded skeletal remains. Forensic Sci Int Genet 6:398–406CrossRef
6.
go back to reference Watherston J, McNevin D, Gahan ME, Bruce D, Ward J (2018) Current and emerging tools for the recovery of genetic information from post mortem samples: new directions for disaster victim identification. Forensic Sci Int Genet 37:270–282CrossRef Watherston J, McNevin D, Gahan ME, Bruce D, Ward J (2018) Current and emerging tools for the recovery of genetic information from post mortem samples: new directions for disaster victim identification. Forensic Sci Int Genet 37:270–282CrossRef
7.
go back to reference Prinz M, Carracedo A, Mayr WR, Morling N, Parsons TJ et al (2007) International Society for Forensic Genetics DNA Commission of the International Society for Forensic Genetics (ISFG): recommendations regarding the role of forensic genetics for disaster victim identification (DVI). Forensic Sci Int. Genet. 1:3–12CrossRef Prinz M, Carracedo A, Mayr WR, Morling N, Parsons TJ et al (2007) International Society for Forensic Genetics DNA Commission of the International Society for Forensic Genetics (ISFG): recommendations regarding the role of forensic genetics for disaster victim identification (DVI). Forensic Sci Int. Genet. 1:3–12CrossRef
8.
go back to reference Hines DZC, Vennemeyer M, Amory S, Huel RLM, Hanson I, Katzmarzyk C. Prioritizing sampling of bone and teeth for DNA analysis in commingled cases, in: Adams BJ, Byrd JE (Eds.). Commingled Human Remains: Methods in Recovery, Analysis, and Identification. 2014;275–305, Elsevier Science, Oxford Hines DZC, Vennemeyer M, Amory S, Huel RLM, Hanson I, Katzmarzyk C. Prioritizing sampling of bone and teeth for DNA analysis in commingled cases, in: Adams BJ, Byrd JE (Eds.). Commingled Human Remains: Methods in Recovery, Analysis, and Identification. 2014;275–305, Elsevier Science, Oxford
9.
go back to reference Edson SM, Ross JP, Coble MD, Parsons TJ, Barritt SM (2004) Naming the dead - confronting the realities of rapid identification of degraded skeletal remains. Forensic Sci Rev 16:64–89 Edson SM, Ross JP, Coble MD, Parsons TJ, Barritt SM (2004) Naming the dead - confronting the realities of rapid identification of degraded skeletal remains. Forensic Sci Rev 16:64–89
10.
go back to reference Zupanič PI (2008) Molekularno genetska identifikacija domobranskih žrtev (Molecular genetic identification of Slovenian home guard victims). Zdrav Vestn 77:745–750 Zupanič PI (2008) Molekularno genetska identifikacija domobranskih žrtev (Molecular genetic identification of Slovenian home guard victims). Zdrav Vestn 77:745–750
11.
go back to reference Zupanič PI (2020) Genetic analysis of skeletal remains of war victims. Revista de medicinæa legalæa 28:40–49 Zupanič PI (2020) Genetic analysis of skeletal remains of war victims. Revista de medicinæa legalæa 28:40–49
12.
go back to reference Zupanič Pajnič I. Analyses of Second World War skeletal remains using a forensic approach, in: Shrivastava P (Ed), et al. Forensic DNA typing : principles, applications and advancements, Springer, Singapore, 2020; pp. 153–179 Zupanič Pajnič I. Analyses of Second World War skeletal remains using a forensic approach, in: Shrivastava P (Ed), et al. Forensic DNA typing : principles, applications and advancements, Springer, Singapore, 2020; pp. 153–179
13.
go back to reference Zupanič PI, Gornjak-Pogorelc B, Balažic J (2010) Molecular genetic identification of skeletal remains from the Second World War Konfin I mass grave in Slovenia. Int J Legal Med 124:307–317CrossRef Zupanič PI, Gornjak-Pogorelc B, Balažic J (2010) Molecular genetic identification of skeletal remains from the Second World War Konfin I mass grave in Slovenia. Int J Legal Med 124:307–317CrossRef
14.
go back to reference Zupanič Pajnič I, Petaros A, Balažic J, Geršak K (2016) Searching for the mother missed since the Second World War. J Forensic Legal Med 44:138–142CrossRef Zupanič Pajnič I, Petaros A, Balažic J, Geršak K (2016) Searching for the mother missed since the Second World War. J Forensic Legal Med 44:138–142CrossRef
15.
go back to reference Zupanič Pajnič I, Obal M, Zupanc T (2020) Identifying victims of the largest Second World War family massacre in Slovenia. Forensic Sci Int. 306:110056CrossRef Zupanič Pajnič I, Obal M, Zupanc T (2020) Identifying victims of the largest Second World War family massacre in Slovenia. Forensic Sci Int. 306:110056CrossRef
16.
go back to reference Mundorff AZ, Bartelink EJ, Mar-Cash E (2009) DNA preservation in skeletal elements from World Trade Center disaster: recommendations for mass fatality management. J Forensic Sci 54:739–745CrossRef Mundorff AZ, Bartelink EJ, Mar-Cash E (2009) DNA preservation in skeletal elements from World Trade Center disaster: recommendations for mass fatality management. J Forensic Sci 54:739–745CrossRef
17.
go back to reference Mundorff AZ, Davoren JM (2014) Examination of DNA yield rates for different skeletal elements at increasing post mortem intervals. Forensic Sci Int Genet 8:55–63CrossRef Mundorff AZ, Davoren JM (2014) Examination of DNA yield rates for different skeletal elements at increasing post mortem intervals. Forensic Sci Int Genet 8:55–63CrossRef
18.
go back to reference Zupanc T, Zupanič Pajnič I, Podovšovnik E, Obal M (2021) High DNA yield from metatarsal and metacarpal bones from Slovenian Second World War skeletal remains. Forensic Sci Int Genet. 51:1024CrossRef Zupanc T, Zupanič Pajnič I, Podovšovnik E, Obal M (2021) High DNA yield from metatarsal and metacarpal bones from Slovenian Second World War skeletal remains. Forensic Sci Int Genet. 51:1024CrossRef
19.
go back to reference Gonzalez A, Cannet C, Zvénigorosky V, Geraut A, Koch G, et al. The petrous bone: ideal substrate in legal medicine? Forensic Sci Int Genet. 2020;47:102305. Gonzalez A, Cannet C, Zvénigorosky V, Geraut A, Koch G, et al. The petrous bone: ideal substrate in legal medicine? Forensic Sci Int Genet. 2020;47:102305.
20.
go back to reference Barta JL, Monroe C, Kemp BM (2014) Mitochondrial DNA preservation across 3000-years-old northern fur seal ribs is not related to bone density: implications for forensic investigations. Forensic Sci Int 239:11–18CrossRef Barta JL, Monroe C, Kemp BM (2014) Mitochondrial DNA preservation across 3000-years-old northern fur seal ribs is not related to bone density: implications for forensic investigations. Forensic Sci Int 239:11–18CrossRef
21.
go back to reference Antinick TC, Foran DR (2019) Intra- and inter-element variability in mitochondrial and nuclear DNA from fresh and environmentally exposed skeletal remains. J Forensic Sci 64:88–97CrossRef Antinick TC, Foran DR (2019) Intra- and inter-element variability in mitochondrial and nuclear DNA from fresh and environmentally exposed skeletal remains. J Forensic Sci 64:88–97CrossRef
22.
go back to reference Redlund-Johnell I (1986) The costoclavicular joint. Skeletal Radiol 15:25–26CrossRef Redlund-Johnell I (1986) The costoclavicular joint. Skeletal Radiol 15:25–26CrossRef
25.
go back to reference Ferenc M (2008) Topografija evidentiranih grobišč (Topography of documented mass graves). In: Dežman J (ed) Poročilo Komisije Vlade Republike Slovenije za reševanje vprašanj prikritih grobišč 2005–2008. Družina, Ljubljana:7–27 Ferenc M (2008) Topografija evidentiranih grobišč (Topography of documented mass graves). In: Dežman J (ed) Poročilo Komisije Vlade Republike Slovenije za reševanje vprašanj prikritih grobišč 2005–2008. Družina, Ljubljana:7–27
26.
go back to reference Latham KE, Miller JJ (2018) DNA recovery and analysis from skeletal material in modern forensic contexts. Forensic Sci Res 4:51–59CrossRef Latham KE, Miller JJ (2018) DNA recovery and analysis from skeletal material in modern forensic contexts. Forensic Sci Res 4:51–59CrossRef
27.
go back to reference Zupanič PI (2016) Extraction of DNA from human skeletal material. In: Goodwin W (ed) Forensic DNA Typing Protocols, Methods in Molecular Biology, vol 1420. Springer Science&Business Media. LLC, New York, pp 89–108CrossRef Zupanič PI (2016) Extraction of DNA from human skeletal material. In: Goodwin W (ed) Forensic DNA Typing Protocols, Methods in Molecular Biology, vol 1420. Springer Science&Business Media. LLC, New York, pp 89–108CrossRef
29.
go back to reference Hong AR, Kim SW (2018) Effects of resistance exercise on bone health. Endocrinol Metab 33:435–444CrossRef Hong AR, Kim SW (2018) Effects of resistance exercise on bone health. Endocrinol Metab 33:435–444CrossRef
30.
go back to reference Alberti F, Gonzalez J, Paijmans JLA, Basler N, Preick M, Henneberger K et al (2018) Optimized DNA sampling of ancient bones using computed tomography scans. Mol Ecol Resour 18:1196–1208CrossRef Alberti F, Gonzalez J, Paijmans JLA, Basler N, Preick M, Henneberger K et al (2018) Optimized DNA sampling of ancient bones using computed tomography scans. Mol Ecol Resour 18:1196–1208CrossRef
31.
go back to reference Pääbo S, Poinar H, Serre D, Jaenicke-Després V, Hebler J, Rohland N et al (2004) Genetic analyses from ancient DNA. Annu Rev Genet 38:645–679CrossRef Pääbo S, Poinar H, Serre D, Jaenicke-Després V, Hebler J, Rohland N et al (2004) Genetic analyses from ancient DNA. Annu Rev Genet 38:645–679CrossRef
32.
go back to reference Parson W, Gusmão L, Hares DR, Irwin JA, Mayr WR, Morling N et al (2014) DNA Commission of the International Society for Forensic Genetics: revised and extended guidelines for mitochondrial DNA typing. Forensic Sci Int Genet 13:134–142CrossRef Parson W, Gusmão L, Hares DR, Irwin JA, Mayr WR, Morling N et al (2014) DNA Commission of the International Society for Forensic Genetics: revised and extended guidelines for mitochondrial DNA typing. Forensic Sci Int Genet 13:134–142CrossRef
33.
go back to reference Gardner MJ, Altman DG (1986) Confidence intervals rather than P values: estimation rather than hypothesis testing. Br Med J 292:746–750CrossRef Gardner MJ, Altman DG (1986) Confidence intervals rather than P values: estimation rather than hypothesis testing. Br Med J 292:746–750CrossRef
34.
go back to reference Ewing MM, Thompson JM, McLaren RS, Purpero VM, Thomas KJ, Dobrowski PA et al (2016) Human DNA quantification and sample assessment: developmental validation of the PowerQuant system. Forensic Sci Int Genet 23:166–177CrossRef Ewing MM, Thompson JM, McLaren RS, Purpero VM, Thomas KJ, Dobrowski PA et al (2016) Human DNA quantification and sample assessment: developmental validation of the PowerQuant system. Forensic Sci Int Genet 23:166–177CrossRef
35.
go back to reference Parsons TJ, Huel RML, Bajunović Z, Rizvić A (2019) Large scale DNA identification: the ICMP experience. Forensic Sci Int Genet 38:236–244CrossRef Parsons TJ, Huel RML, Bajunović Z, Rizvić A (2019) Large scale DNA identification: the ICMP experience. Forensic Sci Int Genet 38:236–244CrossRef
36.
go back to reference Mashiba T, Turner CH, Hirano T, Forwood MR, Johnston CC, Burr DB (2001) Effects of suppressed bone turnover by bisphosphonates on microdamage accumulation and biomechanical properties in clinically relevant skeletal sites in beagles. Bone 28:524–531CrossRef Mashiba T, Turner CH, Hirano T, Forwood MR, Johnston CC, Burr DB (2001) Effects of suppressed bone turnover by bisphosphonates on microdamage accumulation and biomechanical properties in clinically relevant skeletal sites in beagles. Bone 28:524–531CrossRef
37.
go back to reference Ruff C, Holt B, Trinkaus E (2006) Who’s afraid of the big bad Wolff?: “Wolff’s law” and bone functional adaptation. Am J Phys Anthropol 129:484–496CrossRef Ruff C, Holt B, Trinkaus E (2006) Who’s afraid of the big bad Wolff?: “Wolff’s law” and bone functional adaptation. Am J Phys Anthropol 129:484–496CrossRef
38.
go back to reference Leney MD (2006) Sampling skeletal remains for ancient DNA (aDNA): a measure of success. Hist Archeol 40:31–49CrossRef Leney MD (2006) Sampling skeletal remains for ancient DNA (aDNA): a measure of success. Hist Archeol 40:31–49CrossRef
39.
go back to reference Andronowski JM, Mundorff AZ, Pratt IV, Davoren JM (2017) Evaluating differential nuclear DNA yield rates and osteocyte numbers among human bone tissue types: a synchrotron radiation micro-CT approach. Forensic Sci Int Genet 28:211–218CrossRef Andronowski JM, Mundorff AZ, Pratt IV, Davoren JM (2017) Evaluating differential nuclear DNA yield rates and osteocyte numbers among human bone tissue types: a synchrotron radiation micro-CT approach. Forensic Sci Int Genet 28:211–218CrossRef
40.
go back to reference Beresheim AC, Pfeiffer SK, Alblas A (2018) The influence of body size and bone mass on cortical bone histomorphometry in human ribs. Anat Rec 301:1788–1796CrossRef Beresheim AC, Pfeiffer SK, Alblas A (2018) The influence of body size and bone mass on cortical bone histomorphometry in human ribs. Anat Rec 301:1788–1796CrossRef
41.
go back to reference Pal GP, Routal RV (1987) Transmission of weight through the lower thoracic and lumbar regions of the vertebral column in man. J Anat 152:93–105PubMedPubMedCentral Pal GP, Routal RV (1987) Transmission of weight through the lower thoracic and lumbar regions of the vertebral column in man. J Anat 152:93–105PubMedPubMedCentral
Metadata
Title
Intra-bone nuclear DNA variability and STR typing success in Second World War first ribs
Authors
Laura Božič
Tajda Benedik Bevc
Eva Podovšovnik
Tomaž Zupanc
Irena Zupanič Pajnič
Publication date
01-11-2021
Publisher
Springer Berlin Heidelberg
Published in
International Journal of Legal Medicine / Issue 6/2021
Print ISSN: 0937-9827
Electronic ISSN: 1437-1596
DOI
https://doi.org/10.1007/s00414-021-02681-1

Other articles of this Issue 6/2021

International Journal of Legal Medicine 6/2021 Go to the issue