Projects / Programmes
Determination of the most appropriate skeletal elements for molecular genetic identification of aged human remains
| Code |
Science |
Field |
Subfield |
| 3.08.00 |
Medical sciences |
Public health (occupational safety) |
|
| Code |
Science |
Field |
| B680 |
Biomedical sciences |
Public health, epidemiology |
| Code |
Science |
Field |
| 3.03 |
Medical and Health Sciences |
Health sciences |
missing person identification, human skeletal remains, DNA typing, next-generation sequencing (NGS), recommendation for sampling
Researchers (18)
Organisations (2)
Abstract
In forensic investigations unknown human skeletal remains often need to be identified using genetic identification. According to current studies, DNA is best preserved in long bones of the leg and teeth and current recommendation recommend sampling of femurs and teeth. The most recent study performed on contemporary skeletons demonstrated that the small bones of the hands and feet are better suited to genetic identification. As the study was performed on contemporary skeletons, we wish to investigate if the small bones are better for identification of old skeletons as well. The current recommendations for the preferential testing of long bones from the legs and teeth will be re-evaluated and according to the results obtained the sampling strategy for laboratories typing bone samples may be changed.
Objectives
OBJECTIVE 1: Comparison of the success of obtaining DNA from various skeletal elements and determination of the types of skeletal elements best suited to the identification of World War II (WWII) skeletons: three male skeletons from Slovenian WWII mass grave will be processed and DNA extracted from fifty skeletal elements of the head, the body, the arms and the legs. DNA will be typed and the STR (Short Tandem Repeat) profiles determined and evaluated according to the number of successfully typed STRs. Ten skeletal elements will be determined as best suited to the identification.
OBJECTIVE 2: Examination of STR typing success on archaeological skeletons: ten of the skeletal elements determined in Objective 1 will be sampled on a selection of skeletons from archaeological sites in order to determine if it is possible to retrieve DNA for identification even from older and more degraded skeletons. After typing STR profiles will be determined and evaluated according to the number of successfully typed STRs.
OBJECTIVE 3: Examination of identity single nucleotide polymorphisms (SNP) on not successfully STR typed skeletal elements using next generation sequencing (NGS) technology: WWII and archaeological skeletal elements with not successfully typed STRs will be examined with NGS technology on the identity SNPs to verify if it is possible to get useful genetic information for identification purpose even from highly degraded DNA.
OBJECTIVE 4: Examination of phenotypic SNPs on WWII and archaeological skeletons using NGS technology: forensic DNA phenotyping developed recently enable us to predict eye and hair colour of an individual from DNA that can help us in the process of missing person identification. We wonder if it is possible to predict eye and hair colour even from old skeletons and phenotypic SNPs will be examined.
Relevance
The skeletons from WWII and archaeological sites will be used as models for poorly preserved skeletal remains, while the results of the investigation will be applicable to routine forensic cases for the molecular genetic identification of skeletons found in Slovenian mountains and other environments. The proposed project is based on the need for quick and effective sampling of skeletal elements and the successful typing of nuclear STRs in order to identify missing persons and disaster victims, thereby contributing to resolving public health issues concerning the identification of human remains. The project will be conducted by an international, interdisciplinary team including partners from Medical Faculty University of Ljubljana - Institute of Forensic Medicine (dr. Irena Zupanič Pajnič) and Institute of Pathology (dr. Damjan Glavač), University Medical Center Ljubljana (dr. Ksenija Gersak), Department of Medicine, Surgery and Health Sciences, University of Trieste, Italy (dr. Paolo Fattorini) and Institute for Legal Medicine, Faculty of Medicine, University of Belgrade, Serbia (dr. Oliver Stojković). All of this indicates a high scientific and socioeconomic relevance. Proposed approach and expertise of the group shall assure high scientific relevance and accomplishments of project’s ambi
Significance for science
We believe that the results will significantly contribute to:
1. the review of, and eventual changes to, the skeletal element sampling recommendations, and to the possibility of using the small bones of the hands and feet to acquire DNA from old skeletons for molecular genetic identification in forensic labs in Slovenia and abroad. The use of small bones could reduce the possibility of contamination caused by sawing (no saw is needed to sample the small bones of the hands and feet, leaving the bones less exposed to contamination), and shorten the sampling procedure required to identify the skeletal remains of disaster victims and missing persons,
2. the possibility of identification of highly degraded skeletal remains using identity SNPs and NGS technology and
3. the possibility of identification of missing person skeletal remains with prediction of externally visible characteristics (eye and hair colour) of an individual.
Significance for the country
The new findings will be used during routine work at the Institute of Forensic Medicine, Faculty of Medicine, University of Ljubljana, as well as services tasked with protection, rescue and assistance during disasters (the Disaster Victim Identification Unit, part of the Administration of the Republic of Slovenia for Civil Protection and Disaster Relief). Any new recommendations will be prepared for inclusion in public health measures for the management of environmental threats and in the National Guidelines for the Management of Emergency Medical Aid in Mass Fatality Incidents.
Most important scientific results
Interim report,
final report
Most important socioeconomically and culturally relevant results
Interim report,
final report
