The petrous bone: Ideal substrate in legal medicine?

Gonzalez, Angéla; Cannet, Catherine; Zvénigorosky, Vincent; Géraut, A.; Koch, Guillaume; Delabarde, Tania; Ludes, Bertrand; Raul, Jean‐Sébastien; Keyser, Christine

doi:10.1016/j.fsigen.2020.102305

Cited by 21 publications

(21 citation statements)

References 44 publications

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“…This study confirmed the value of the otic capsule of the petrous bone as a skeletal element in maximizing DNA yield in order to increase the probability of obtaining complete Y-STR profiles and limit allelic drop-out, but also in preventing contamination with exogenous human DNA (Gonzalez et al, 2020). The genetic material showed different rates of preservation, ranging from a moderate to a significant degradation (reaching 107), as indicated from the values of the DI reported in Table 2.…”

Section: Discussionsupporting

confidence: 78%

“…Important methodological improvements also regarded the development of increasingly efficient extraction protocols and genotyping kits. 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 ).…”

Section: Discussionmentioning

confidence: 99%

“…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 ). 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 ). In particular, in ancient samples it has been demonstrated that the inner ear cochlear region of the otic capsule of the petrous bone, can lead to endogenous DNA yields up to 50–100-fold higher than those obtained from other bones, such as teeth or long bones ( Gamba et al, 2014 ; Pinhasi et al, 2015 ).…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2021

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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.

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Section: Discussionsupporting

confidence: 78%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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

et al. 2021

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“…Only one skeletal element type that is the highest DNA-yielding bone type in the human body—the petrous bone—was selected for this purpose. The petrous portion of the temporal bone, in fact, has been shown to be the most suitable skeletal part [ 28 ] for sampling ancient skeletons [ 29 , 30 ], and it has also been used successfully in forensic genetic investigations [ 31 , 32 , 33 , 34 ].…”

Section: Introductionmentioning

confidence: 99%

Eye and Hair Color Prediction of Ancient and Second World War Skeletal Remains Using a Forensic PCR-MPS Approach

Pajnič

Zupanc

Leskovar

et al. 2022

Genes

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To test the usefulness of the forensic PCR-MPS approach to eye and hair color prediction for aged skeletons, a customized version of the PCR-MPS HIrisPlex panel was used on two sets of samples. The first set contained 11 skeletons dated from the 3rd to the 18th centuries AD, and for each of them at least four bone types were analyzed (for a total of 47 samples). In the second set, 24 skeletons from the Second World War were analyzed, and only petrous bones from the skulls were tested. Good-quality libraries were achieved in 83.3% of the cases for the ancient skeletons and in all Second World War petrous bones, with 94.7% and 100% of the markers, respectively, suitable for SNP typing. Consensus typing was achieved for about 91.7% of the markers in 10 out of 11 ancient skeletons, and the HIrisPlex-S webtool was then used to generate phenotypic predictions. Full predictions were achieved for 3 (27.3%) ancient skeletons and 12 (50%) Second World War petrous bones. In the remaining cases, different levels of AUC (area under the receiver operating curve) loss were computed because of no available data (NA) for 8.3% of markers in ancient skeletons and 4.2% of markers in Second World War petrous bones. Although the PCR-based approach has been replaced with new techniques in ancient DNA studies, the results show that customized forensic technologies can be successfully applied to aged bone remains, highlighting the role of the template in the success of PCR-MPS analysis. However, because several typical errors of ancient DNA sequencing were scored, replicate tests and accurate evaluation by an expert remain indispensable tools.

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

et al. 2023

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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.

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The petrous bone: Ideal substrate in legal medicine?

Cited by 21 publications

References 44 publications

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

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

Eye and Hair Color Prediction of Ancient and Second World War Skeletal Remains Using a Forensic PCR-MPS Approach

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

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