Different skeletal elements as a source of DNA for genetic identification of Second World War victims

Obal, Marcel; Pajnič, Irena Zupanič; Pogorelc, Barbara Gornjak; Zupanc, Tomaž

doi:10.1016/j.fsigss.2019.09.013

Cited by 10 publications

(4 citation statements)

References 10 publications

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“…Petrous bone has been pointed out in ancient DNA research as the remain with the largest amount of endogenous DNA quantity, with higher C→T damage rate and smaller mitochondrial DNA/nuclear DNA ratio, and high sample to sample variation [28]. In forensic literature, larger DNA quantities have been obtained from long bones [30], such as tibia [8,31,32], while other studies obtained better yields from petrous bone rather than from femur or teeth [10,29,[33][34][35][36]. Petrous bone generally yields high DNA quantities and low degradation index [35,37].…”

Section: Dna Quantificationmentioning

confidence: 99%

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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Section: Dna Quantificationmentioning

confidence: 99%

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

et al. 2023

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“…Even if the same type of skeletal element was used, and the same intra-bone part was sampled, the wide interval between minimum and maximum in both targets for measuring the nDNA yield as well as the mtDNA copy number shows large variability in DNA content in samples even though the remains had the same postmortem interval (~75 years) and had been exposed to similar environmental conditions (both mass graves were located in karst caves), indicating the high complexity of aged bone tissue in the preservation of DNA. Namely, numerous studies have shown that there are differences in nDNA yields between different types of skeletal elements [ 33 , 40 , 41 ] and even between different parts of the same skeletal element [ 35 – 37 ]. Furthermore, in all samples measured, mtDNA CN was 3 to 2498-fold larger than from nDNA qPCR results calculated mtDNA CN, which indicates that an underestimation would have been made if mtDNA CN was calculated from nDNA qPCR results instead of being measured using qPCR mtDNA target.…”

Section: Discussionmentioning

confidence: 99%

Measure quantity of mitochondrial DNA in aged bones or calculate it from nuclear DNA quantitative PCR results?

Obal,

Zupanc,

Zupanič Pajnič

2023

Int J Legal Med

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Mitochondrial DNA (mtDNA) is of great value in forensics to procure information about a person when a next of kin, personal belongings, or other sources of nuclear DNA (nDNA) are unavailable, or nDNA is lacking in quality and quantity. The quality and reliability of the results depend greatly on ensuring optimal conditions for the given method, for instance, the optimal input of the copy number (CN) in next-generation sequencing (NGS) methods. The unavailability of commercial quantitative PCR (qPCR) methods to determine mtDNA CN creates the necessity to rely on recommendations to infer mtDNA CN from nDNA yield. Because nDNA yield varies between individuals, tissues, parts of the same tissue, and because mtDNA CN varies between tissues, such assumptions must be examined for a specific context, rather than be generalized. This study compares mtDNA CN calculated from nDNA yield and qPCR measured mtDNA CN. Seventy-five femurs from the Second World War victims were used as samples; they were cut below the greater trochanter, surface contaminants were removed by mechanical and chemical cleaning, samples were fully demineralized, and DNA was isolated. PowerQuant® Kit (Promega) was used to analyze DNA yield. An in-house method was used to determine mtDNA CN. Comparison of mtDNA CN from nDNA derived calculations and measured mtDNA CN highlighted vast differences. The results emphasize the need to perform qPCR to assess mtDNA CN before NGS analyses of aged bones’ mitogenomes rather than estimating mtDNA CN from nDNA yield to ensure the quality and reliability of the results of NGS analysis.

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“…According to Johnson and Paul (2016), the archaeological studies of kinship reflect the growing interest in understanding what the concept of "family" has meant throughout history and if human beings have followed the same rituals and concepts in distinct periods. Alternatively, in cases of soldiers whose identification is not known given the time passed after their deaths, or of victims of war crimes and torture, the application of DNA analysis acquires a leading role (Hummel 2003;Zupanič Pajnič et al 2016;Friš et al 2019;Gomes et al 2019;Obal et al 2019;Palomo-Díez et al 2019;Marshall et al 2020).…”

Section: The Genetic Approachmentioning

confidence: 99%

Genealogy: The Tree Where History Meets Genetics

et al. 2021

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Although biological relationships are a universal reality for all human beings, the concepts of “family” and “family bond” depend on both the geographic region and the historical moment to which they refer. However, the concept of “family” can be determinant in a large variety of societies, since it can influence the lines of succession, inheritances and social relationships, as well as where and with whom an individual is buried. The relation between a deceased person and other members of a community, other individuals of the same necropolis, or even with those who are buried in the same tomb can be analysed from the genetic point of view, considering different perspectives: archaeological, historical, and forensic. In the present work, the concepts of “family” and “kinship” are discussed, explaining the relevance of genetic analysis, such as nuclear and lineage markers, and their contribution to genealogical research, for example in the heritage of surnames and Y-chromosome, as well as those cases where some discrepancies with historical record are detected, such as cases of adoption. Finally, we explain how genetic genealogical analyses can help to solve some cold cases, through the analysis of biologically related relatives.

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Different skeletal elements as a source of DNA for genetic identification of Second World War victims

Cited by 10 publications

References 10 publications

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

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

Measure quantity of mitochondrial DNA in aged bones or calculate it from nuclear DNA quantitative PCR results?

Genealogy: The Tree Where History Meets Genetics

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