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    Expanding population data for mtDNA haplogroups in the Republic of North Macedonia by using mtDNA set of SNPs in SNP microarray analysis
    (International Society for Forensic Genetics (ISFG), 2024-09)
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    Janevski, Robert
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    Kokich, Meri
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    Kocevska, Sara
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    Boshkovski, Ognen
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    Consent form, the highest ethical standard in creating DNA databases for criminal investigation
    (Elsevier BV, 2022-12)
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    Donevska-Stefanov, Pavlinka
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    Janevski, Robert
    Preparation of DNA databases for the purpose of criminal investigation opens discussions about ethical-legal issues concerning violation of human rights. The practice shows that one of the human rights that can be misused while creating such a database is the right to freedom, the freedom to make a decision. When preparing DNA databases, the right to freedom refers to free decision of the person to be sampled for carrying out the test. The right to freedom and respect to self-determination of the person implies the necessity of prior consent of the subject when preparing a database on general population level. This is not a case when databases are created from persons under investigation for committing a crime, who are compulsory subjected for obtaining samples for DNA analysis. Legal regulations approve the duty of the police and its authorization in collecting samples for personal or criminalistic identification, analyzing, keeping and eliminating collected personal information when criminal prosecution is concerned. In these cases, consent form from the subject is not necessary. However, we should be aware that the process of taking and collecting of personal information by the national institutions can have direct impact of privacy of the subject, no matter if this information is going to be used or not. In purpose of fair balance between public and private interest, consent form can be redefined and the person from whom the biological material is provided will be unequivocally made aware of the purposes for which his genetic data will be used, how long his DNA will undergo further automated processing, and about the procedure and under what conditions his DNA profile can be removed from the national DNA databases.
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    Y-chromosome diversity of the three major ethno-linguistic groups in the Republic of North Macedonia
    (Elsevier BV, 2019-09)
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    Seidel, Maria
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    Videtič Paska, Alja
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    Willuweit, Sascha
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    Roewer, Lutz
    A total of 314 individuals representing the three major ethno-linguistic groups (ethnic Macedonians, Albanians and Turks) in the Republic of North Macedonia were analyzed for Y-SNPs and Y-STRs using minisequencing and fragment analysis. The haplogroup composition differed remarkably between the three groups with dominance of haplogroup I2 in ethnic Macedonians (28.1%), E1b in Albanians (35.3%) and J2a (34.9%) in Turks, respectively. The haplotype analysis using the YFilerPlus kit disclosed a significant reduction in diversity values (DC, GD) for the Turkish subgroup compared to the Macedonian and Albanian speaking populations. The Y-STR based population analysis revealed a similarity of ethnic Macedonians with neighboring Serbians and Bulgarians. The same holds true for the Albanian speakers from Macedonia and Albania, whereas the Turkish minority in North Macedonia stands apart from the population in Turkey.
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    ANTHROPOLOGICAL ANALYSIS OF HUMAN SKELETAL REMAINS IN FORENSIC CASES
    (Macedonian Association of Anatomists and Morphologists, 2024)
    Anthropological analysis of skeletal human remains is an important aspect in determining the identity of the deceased, time of death and eventually the cause and manner of death. Given the fact that bones and teeth survive much longer in comparison to soft tissue, analysis of skeletal and dental characteristics is quite often a material in forensic investigation and is of substantial value in forensic casework. Through interpreting the shape and size of the skeletal remains, four basic biological criteria such as skeletal age, biological sex, living stature and ancestry or racial affiliation could be determined, individualizing the deceased. Describing the unknown human remains in such a way becomes a feasible way to create a biological profile of the individual studied, and to enable law enforcement to narrow the range of possible missing identities. In the investigation of mass graves and identification of victims of mass disasters, forensic anthropology investigation is crucial. In this article, some of the forensic cases of human skeletal remains anthropological investigation in our practice, are presented. A case where through analysis of the morphological and metric characteristics of the skeletal remains, biological sex, age, and stature of the deceased were estimated and a case where with analysis of bone fragments more than one individual present within the remains was determined. These analyses are important in medicolegal aspect.
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    Genotype characteristics of Y-chromosome in the Balkan population: review of haplogroup frequencies
    (Informa UK Limited, 2024-06-02)
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    Jovchevska, Ivana
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    Kouter, Katarina
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    Filipova, Silvana
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    Videtič Paska, Alja
    The genetic structure of the Balkan peoples is complex and is reflection of continuous migration processes and settlement of various tribes and ethnic groups throughout past centuries. The human uniparental genetic markers, the Y-chromosome and mitochondrial DNA are widely used for studying population heterogeneity, human migration processes and recently, as important markers in forensic cases. Y-chromosome short tandem repeats (Y-STRs) and single nucleotide polymorphisms (Y-SNPs) are used to find the origin of bio-geographic ancestry of individuals and populations. Except in understanding of population origins from an evolutionary perspective, determination of the Y-chromosome haplogroups distribution is of great importance in forensic cases, since it is suitable to provide information about paternal biogeographical ancestry of unknown perpetrators or missing persons in cases where autosomal DNA profiling is uninformative. Published results show that the population of the Balkans is mostly characterized by Y-chromosome haplogroups I, R and E. The most frequent are haplogroups I2, R1a and E1b1b descending from Europe, west Asia and Africa, respectively. The aims of this article are to present Y-chromosome haplogroups that are predominant in population of the Balkans, and give an overview of their distribution for application in population studies, forensic cases and as documents of evolutionary history.
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    Familial search as a complementary tool for identification of unknown offender - case report
    (International Society for Forensic Genetics (ISFG), 2024-09)
    Trajkovska Pavlovska, Ljubica
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    Velichkova Acevska, Lenche
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    Evaluation of mitogenome sequence concordance, heteroplasmy detection, and haplogrouping in a worldwide lineage study using the Precision ID mtDNA Whole Genome Panel
    (Elsevier BV, 2019-09)
    Strobl, Christina
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    Churchill Cihlar, Jennifer
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    Lagacé, Robert
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    Wootton, Sharon
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    Roth, Chantal
    The emergence of Massively Parallel Sequencing technologies enabled the analysis of full mitochondrial (mt)DNA sequences from forensically relevant samples that have, so far, only been typed in the control region or its hypervariable segments. In this study, we evaluated the performance of a commercially available multiplex-PCR-based assay, the Precision ID mtDNA Whole Genome Panel (Thermo Fisher Scientific), for the amplification and sequencing of the entire mitochondrial genome (mitogenome) from even degraded forensic specimens. For this purpose, more than 500 samples from 24 different populations were selected to cover the vast majority of established superhaplogroups. These are known to harbor different signature sequence motifs corresponding to their phylogenetic background that could have an effect on primer binding and, thus, could limit a broad application of this molecular genetic tool. The selected samples derived from various forensically relevant tissue sources and were DNA extracted using different methods. We evaluated sequence concordance and heteroplasmy detection and compared the findings to conventional Sanger sequencing as well as an orthogonal MPS platform. We discuss advantages and limitations of this approach with respect to forensic genetic workflow and analytical requirements.
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    TRAUMATIC NECK INJURIES IDENTIFIED BY CONVENTIONAL X-RAY IMAGING-AN AUTOPSY CASE REPORT
    (Macedonian Association of Anatomists and Morphologists, 2023)
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    Mitrevski, Zoran
    Traumatic injuries of the neck in violent death cases are not so common finding in autopsy examination such as traumatic head injuries that may have caused or contributed to death. Nevertheless, forensic examination of the neck structures must be done thoroughly as well as examination of other parts of the body, especially when there is a particular indication for suspected serious injury in the neck region such as fractures of the cervical vertebrae or dislocations due to ligamentous separation. External inspection of the neck is quite simple in comparison to internal examination. Even after anterior and posterior preparation of the soft tissue layers of the neck region, all parts of the upper cervical vertebrae are not easily accessible for examination. In such cases, a radiographic examination is indicated for displaying and localizing possible dislocations or fractures of the neck. In this paper we present an autopsy case where upper cervical vertebrae fractures detected by post mortem X-ray imaging were the clue for solving the cause and manner of death. An accurate forensic approach of the case is necessary since it has medico-legal importance in aspect of gathering all possible evidence to verify the injuries that may caused, or contributed to, death.
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    Mitochondrial DNA profiling in combination with autosomal loci as a valuable tool for obtaining statistical significance in forensic cases
    (Genesis Global Publication, 2024-07)
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    Filipova, Silvana
    The majority of forensic casework utilizes DNA markers of the nuclear genome such as short tandem repeats (STRs) scattered throughout the non-coding regions of autosomal or sex chromosomes. However, there are some scenarios in which the analysis of nuclear DNA markers is impossible or impractical, or not sufficient for statistical calculation of the results. In number of such cases, mitochondrial DNA (mtDNA) analysis has proven to be a valuable tool. Several characteristics such as high level of polymorphisms, multiple copies of the mtDNA genome in each cell and maternally inheritance make it useful in forensic genetic analysis. Mitochondrial DNA profiling is mainly used in human identification and in the analysis of crime scene samples when conventional DN analysis is difficult. In identifying human remains sometimes it may be possible to obtain large amount of nuclear DNA suitable for profiling, but there may be not suitable relative with whom to compare, so statistical calculation for the results of analyzed nuclear markers (STRs) may be not sufficient for statistical significance.