Digging up the recent Spanish memory: genetic identification of human remains from mass graves of the Spanish Civil War and posterior dictatorship

Baeta, Miriam; Núñez, Carolina; Cardoso, Sergio; Herrasti, Lourdes; Etxeberria, Francisco; Palencia-Madrid, Leire

doi:10.1016/j.fsigen.2015.09.001

Cited by 45 publications

(24 citation statements)

References 37 publications

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“…In this study, we assess the power of the new MiSeq FGx and ForenSeq DNA Signature Prep Kit (Illumina) to identify individuals from the mass graves of the Spanish Civil War (1936–1939). Until today, only about 15% of the approximately 2000 mass graves have been exhumed . Previous studies using CE on mass graves from the Spanish Civil War are discordant regarding the success rate of STR profiling, with acceptable results in some of them but very low quality in others where identification was only possible or assisted because of mitochondrial DNA analyses .…”

Section: Introductionmentioning

confidence: 99%

“…Until today, only about 15% of the approximately 2000 mass graves have been exhumed . Previous studies using CE on mass graves from the Spanish Civil War are discordant regarding the success rate of STR profiling, with acceptable results in some of them but very low quality in others where identification was only possible or assisted because of mitochondrial DNA analyses . However, while the use of mitochondrial DNA sequences can be of great utility for identifications in cases where a particular identity is clearly suspected, or to support morphological evidence, its significance is conditioned by the haplotype frequency in the population.…”

Section: Introductionmentioning

confidence: 99%

“…Therefore, its application would be limited in cases of exhumations for individual identification without a priori candidates. Finally, individual identification is also limited by the lack of genetic profiles for possible relatives, as reported in the deepest genetic analysis of Spanish mass graves to date, achieving identification in 51% of cases with informative genetic profiles . This lack of possible living relatives, and specially of first‐degree, has limited identifications in the case of the Spanish Civil War mass graves, as well as in other war conflicts occurred a long time ago such as the Second World War .…”

Section: Introductionmentioning

confidence: 99%

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An assessment of a massively parallel sequencing approach for the identification of individuals from mass graves of the Spanish Civil War (1936–1939)

et al. 2016

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Next-generation sequencing technologies have opened new opportunities in forensic genetics. Here, we assess the applicability and performance of the MiSeq FGx™ & ForenSeq™ DNA Signature Prep Kit (Illumina) for the identification of individuals from the mass graves of the Spanish Civil War (1936-1939). The main limitations for individual identification are the low number of possible first-degree living relatives and the high levels of DNA degradation reported in previous studies. Massively parallel sequencing technologies enabling the analysis of hundreds of regions and prioritizing short length amplicons constitute a promising tool for this kind of approaches. In this study, we first explore the power of this new technology to detect first- and second-degree kinship given different scenarios of DNA degradation. Second, we specifically assess its performance in a set of low DNA input samples previously analyzed with CE technologies. We conclude that this methodology will allow identification of up to second-degree relatives, even in situations with low sequencing performance and important levels of allele drop-out; it is thus a technology that resolves previous drawbacks and that will allow a successful approximation to the identification of remains.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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An assessment of a massively parallel sequencing approach for the identification of individuals from mass graves of the Spanish Civil War (1936–1939)

et al. 2016

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“…Če se odločimo za uporabo sorodnikov, imamo na voljo dovolj kakovosten biološki vzorec (kri ali slino, običajno odvzeto v ambulanti) za pridobitev kompletnih profilov, upoštevati pa moramo možnost, da sorodniki s pogrešanim niso genetsko povezani, kot se predvideva, kar se zgodi v primeru nebiološkega očetovstva ali posvojitve (3). Pridobitev referenčnega materiala genetsko nepovezanih sorodnikov lahko privede v lažno negativne rezultate genetske identifikacije (11). V študiji, ki jo je opravil Hartman s sodelavci (12), so večji del pogrešanih oseb (82 %) uspešno identificirali s pomočjo referenčnih vzorcev sorodnikov.…”

Section: Primerjalni Ali Referenčni Materialsunclassified

Genetska identifikacija pogrešanih oseb

Bajželj

Pajnič

2017

SlovMedJour

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IzvlečekPrispevek na pregleden način opisuje identifikacijo pogrešanih oseb iz neprepoznavnih posmrtnih ostankov, ki jo opravimo z molekularno-genetskimi metodami. Izredno polimorfna, individualno specifična področja, ki nam omogočajo prepoznavo pogrešanega, so mikrosateliti na avtosomih in kromosomu Y ter kontrolna regija mitohondrijske DNA. Za primerjavo genetskih profilov je potrebno odvzeti biološki material iz posmrtnih ostankov in pridobiti primerjalne referenčne vzorce. Če so ostanke našli kmalu po domnevni smrti pogrešanega, poskušamo pridobiti primerjalne vzorce z njegovih osebnih predmetov. Če teh ni, uporabimo kot referenčne vzorce brise ustnih sluznic njegovih sorodnikov ali morebitna, v zdravstvenih ustanovah arhivirana tkiva, če je bila v času življe-nja pogrešane osebe opravljena biopsija za potrebe medicinske diagnostike. Kadar ni ne osebnih predmetov, ne svojcev in ne arhiviranih tkiv pogrešane osebe, genetska identifikacija ni možna. Kot biološki material najpogosteje uporabimo kri, mehka tkiva, nohte, zobe ali kosti, kar je odvisno od stanja posmrtnih ostankov. Postopki, ki jih uporabljamo za ekstrakcijo DNA iz različnih tkiv, se med seboj razlikujejo po zahtevnosti in času, ki ga porabimo za pridobitev DNA. Najzahtevnejša in časovno potratna je izolacija DNA iz kosti in zob, zato se zanjo odločimo le v primeru skeletiziranih posmrtnih ostankov, ali ko iz drugih tkiv ne uspemo pridobiti zadostne količine DNA za genetsko identifikacijo. Ob ujemanju genetskih profilov neprepoznavnih posmrtnih ostankov in primerjalnih vzorcev pogrešane osebe je potrebno moč genetskega dokaza statistično ovrednotiti in podati verjetnost identifikacije. AbstractThis article presents identification of missing persons from badly preserved post-mortem remains using molecular genetics methods. Extremely polymorphic and individually specific genetic markers that enable the identification of missing persons are microsatellites on autosomal chromosomes, microsatellites on Y chromosome and control region of mitochondrial DNA. For genetic profile comparison, biological material from post-mortem remains and reference samples have to be collected. If post-mortem remains are found shortly after the presumed death of the missing person, their personal items are used for comparison. If these are not available, (the missing person's) relatives could be used as reference samples or achieved tissues stored in medical institutions if biopsy for the needs of medical diagnostics was performed earlier during their life. When reference samples are not available, genetic identification is not possible. The type of biological material sampled from the deceased depends on the condition of human remains. Blood, soft tissues, nails, teeth or bones are most commonly used for genetic identification, and the time required for DNA extraction depends on the type of biological material. The most demanding and time consuming is extraction of DNA from teeth and bones, therefore we use it in cases when only skeleton is available or we cannot get a su...

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“…The field of forensic kinship testing includes several applications closely related to those addressed in this paper. The flexibility of our simulation approach makes it easily adaptable to power analysis in more general cases of family reunification [15], immigration cases [16] and disaster victim identification [17].…”

Section: Introductionmentioning

confidence: 99%

Prioritising family members for genotyping in missing person cases: A general approach combining the statistical power of exclusion and inclusion

Vigeland

Mársico

Piñero

et al. 2020

Forensic Science International: Genetics

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Missing person identification typically involves genetic matching of a person of interest against relatives of the missing person. In cases with few available relatives, exhumations or other substantial efforts may be necessary in order to secure adequate statistical power. We propose a simulation approach for solving prioritisation problems arising in such cases. Conditioning on the already typed individuals we estimate the power of each alternative, both to detect the true person, and to exclude false candidates. Graphical summaries of the simulations are given in complementary power plots, facilitating interpretation and decision making. Through a series of examples originating from the well-known Missing grandchildren of Argentina we demonstrate that our method may untangle complex prioritisation problems and other power-related questions. In particular we offer novel insights in recent cases where only children of the potential match are available for testing. We also show that Xchromosomal markers may give high statistical power in missing person identification, but that this requires careful selection of relatives for genotyping. All simulations, power calculations and plots are done with the R package forrel.

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Digging up the recent Spanish memory: genetic identification of human remains from mass graves of the Spanish Civil War and posterior dictatorship

Cited by 45 publications

References 37 publications

An assessment of a massively parallel sequencing approach for the identification of individuals from mass graves of the Spanish Civil War (1936–1939)

An assessment of a massively parallel sequencing approach for the identification of individuals from mass graves of the Spanish Civil War (1936–1939)

Genetska identifikacija pogrešanih oseb

Prioritising family members for genotyping in missing person cases: A general approach combining the statistical power of exclusion and inclusion

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