Progress in forensic bone DNA analysis: Lessons learned from ancient DNA

Hofreiter, Michael; Šneberger, Jiří; Pospíšek, Martin; Vaněk, Daniel

doi:10.1016/j.fsigen.2021.102538

Cited by 43 publications

(49 citation statements)

References 223 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In conclusion, we have identified that an altered ancient DNA extraction protocol coupled with single-stranded library preparation increases the amount of recovered mtDNA from disinterred military service member skeletal remains. These findings emphasize the value of exchanging methods between the ancient DNA and forensic fields [ 29 ], which are beneficial in both directions as shown from the ancient DNA community integrating bleach treatment to remove contamination from samples [ 53 , 54 ]. The integration of the methods in this study into casework samples with highly degraded DNA has the potential to increase success rates for identifying historical remains.…”

Section: Discussionmentioning

confidence: 98%

“…Yet both fields share the common problem of analyzing DNA that is (or can be) highly degraded. This commonality prompted the question if methods from the ancient DNA field could improve success rates for generating mtDNA profiles for historical identifications, which has been suggested in recent studies and reviews [ 28 , 29 , 30 ]. Therefore, we tested the feasibility of integrating ancient DNA methods into a forensic casework workflow by comparing different DNA extraction and library preparation protocols using fifteen skeletal remains with DNA of varying quality as determined by previous testing.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Ancient DNA Methods Improve Forensic DNA Profiling of Korean War and World War II Unknowns

Zavala

Thomas²,

Sturk-Andreaggi

et al. 2022

Genes

View full text Add to dashboard Cite

The integration of massively parallel sequencing (MPS) technology into forensic casework has been of particular benefit to the identification of unknown military service members. However, highly degraded or chemically treated skeletal remains often fail to provide usable DNA profiles, even with sensitive mitochondrial (mt) DNA capture and MPS methods. In parallel, the ancient DNA field has developed workflows specifically for degraded DNA, resulting in the successful recovery of nuclear DNA and mtDNA from skeletal remains as well as sediment over 100,000 years old. In this study we use a set of disinterred skeletal remains from the Korean War and World War II to test if ancient DNA extraction and library preparation methods improve forensic DNA profiling. We identified an ancient DNA extraction protocol that resulted in the recovery of significantly more human mtDNA fragments than protocols previously used in casework. In addition, utilizing single-stranded rather than double-stranded library preparation resulted in increased attainment of reportable mtDNA profiles. This study emphasizes that the combination of ancient DNA extraction and library preparation methods evaluated here increases the success rate of DNA profiling, and likelihood of identifying historical remains.

show abstract

Section: Discussionmentioning

confidence: 98%

Section: Introductionmentioning

confidence: 99%

Ancient DNA Methods Improve Forensic DNA Profiling of Korean War and World War II Unknowns

Zavala

Thomas²,

Sturk-Andreaggi

et al. 2022

Genes

View full text Add to dashboard Cite

show abstract

“…The petrous bone (the densest part of the temporal bone) is a source of DNA in both larger quantities and of better quality than other bones, and it represents the substrate of choice for DNA extraction and analyses of ancient and/or degraded DNA ( Gonzalez et al, 2020 ). Although, it was originally published in the forensic field ( Edson et al, 2009 ), the petrous bone was not truly implemented in laboratory work by the forensic community, probably due to ethical aspects related to the invasive sampling ( Hofreiter et al, 2020 ). Recently, several studies have however demonstrated the usefulness of this skeletal element to genotype forensic samples ( Pilli et al, 2018 ; Gonzalez et al, 2020 ), and the improving Y-STR typing for human identification by the YFiler Plus kit in skeletal remains ( Ambers et al, 2018 ).…”

Section: Discussionmentioning

confidence: 99%

“…Recently, several studies have however demonstrated the usefulness of this skeletal element to genotype forensic samples ( Pilli et al, 2018 ; Gonzalez et al, 2020 ), and the improving Y-STR typing for human identification by the YFiler Plus kit in skeletal remains ( Ambers et al, 2018 ). In addition, the increased efficiency of extraction protocols and amplification systems should also be noted ( Loreille et al, 2007 ; Amory et al, 2012 ; Dabney et al, 2013 ; Hofreiter et al, 2020 ).…”

Section: Discussionmentioning

confidence: 99%

“…Research on ancient and forensic DNA are related since they deal with similar challenges, although, they are guided from different purposes and usually they rely on different methodological approaches ( Hofreiter et al, 2020 ). Despite the progress made in recent years in the development of technologies and protocols, the selection of a suitable source of endogenous DNA is still crucial for the success of genetic analyses on degraded samples ( Gonzalez et al, 2020 ).…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Twenty-Seven Y-Chromosome Short Tandem Repeats Analysis of Italian Mummies of the 16th and 18th Centuries: An Interdisciplinary Research

et al. 2021

View full text Add to dashboard Cite

Roccapelago (MO) is a small village located in the Northern Central Apennines, with a population of 31 inhabitants (2014). In 2010, more than 400 individuals dated between the end of the 16th and the 18th century, many of which partially mummified, were discovered in the crypt of the church. This small village, because of its geographical location and surrounding environment, seems to possess the characteristics of a genetic isolate, useful for population genetics and genealogical analyses. Thus, a diachronic study of DNA aimed at investigating the structure and dynamics of the population of Roccapelago over the about 4 centuries, was conducted by analyzing ancient and modern inhabitants of the village. The 14 modern samples were selected by considering both the founder surnames of the village, identified thanks to the study of parish registers, and the grandparent’s criterion. From 25 ancient mummies, morphologically assigned to male individuals, the petrous bone, that harbors high DNA amounts, was selected for the DNA extraction. The quantification and qualitative assessment of total human male DNA were evaluated by a real-time PCR assay using the Quantifiler Trio DNA Quantification Kit and multiplex PCR of 27 Y-chromosome short tandem repeat (Y-STR) markers included in the Yfiler Plus PCR Amplification Kit, with seven rapidly mutating Y-STR loci for improving discrimination of male lineages, was performed to genotype the samples. Y-STRs were analyzed according to the criteria of ancient DNA (aDNA) analysis to ensure that authentic DNA typing results were obtained from these ancient samples. The molecular analysis showed the usefulness of the Y chromosome to identify historically relevant remains and discover patterns of relatedness in communities moving from anthropology to genetic genealogy and forensics.

show abstract

A comparison between petrous bone and tooth, femur and tibia DNA analysis from degraded skeletal remains

et al. 2023

View full text Add to dashboard Cite

Skeletal remains are the only biological material that remains after long periods; however, environmental conditions such as temperature, humidity, and pH affect DNA preservation, turning skeletal remains into a challenging sample for DNA laboratories. Sample selection is a key factor, and femur and tooth have been traditionally recommended as the best substrate of genetic material. Recently, petrous bone (cochlear area) has been suggested as a better option due to its DNA yield. This research aims to evaluate the efficiency of petrous bone compared to other cranium samples (tooth) and postcranial long bones (femur and tibia). A total amount of 88 samples were selected from 38 different individuals. The samples were extracted by using an organic extraction protocol, DNA quantification by Quantifiler Trio kit and amplified with GlobalFiler kit. Results show that petrous bone outperforms other bone remains in quantification data, yielding 15–30 times more DNA than the others. DNA profile data presented likeness between petrous bone and tooth regarding detected alleles; however, the amount of DNA extracted in petrous bones allowed us to obtain more informative DNA profiles with superior quality. In conclusion, petrous bone or teeth sampling is recommended if DNA typing is going to be performed with environmentally degraded skeletal remains.

show abstract

Progress in forensic bone DNA analysis: Lessons learned from ancient DNA

Cited by 43 publications

References 223 publications

Ancient DNA Methods Improve Forensic DNA Profiling of Korean War and World War II Unknowns

Ancient DNA Methods Improve Forensic DNA Profiling of Korean War and World War II Unknowns

Twenty-Seven Y-Chromosome Short Tandem Repeats Analysis of Italian Mummies of the 16th and 18th Centuries: An Interdisciplinary Research

A comparison between petrous bone and tooth, femur and tibia DNA analysis from degraded skeletal remains

Contact Info

Product

Resources

About