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Adli Uygulamalarda Yeni Nesil Dizileme Teknolojilerinin Yeri ve Önemi

Year 2024, Volume: 38 Issue: 3, 267 - 284, 31.12.2024

Abstract

Günümüzde tüm dünyada adli kimliklendirmede otozomal STR (Short Tandem Repeat; Kısa Ardışık Tekrarlar) analizi altın standart olarak kabul edilmektedir ve birçok adli vaka için STR tiplemesi yeterli ayrım gücü sağlamaktadır. Özellikle can kaybının çok olduğu, vücut bütünlüğünün bozulduğu ve DNA örneğinin az ya da karışmış veya parçalanmış olduğu felaket kurbanlarının kimliklendirilmesinde X ve Y kromozomu STR belirteçleri (X-STR ve Y-STR) ve mitokondriyal DNA analizi gibi ilave belirteçlerden de yararlanılmaktadır. Vücut sıvılarının kimliklendirilmesi, monozigotik ikizlerin ayrılması ve ölüm zamanının belirlenmesinde ise DNA metilasyon kalıpları ve miRNA analizleri gibi epigenetik değişiklikler değerlendirilmektedir. Tüm bu adli belirteçlerin yetersiz kaldığı vakalarda son yıllarda Yeni nesil dizileme (YND) teknolojilerinden de yararlanılmaktadır. YND tüm ekzom ya da tüm genomu hızlı bir şekilde dizileyen ve genom hakkında geniş çaplı bilgi edinmemizi sağlayan bir teknolojidir. Adli kimliklendirme ve vücut sıvılarını kimliklendirmenin yanı sıra adli entomolojik çalışmalar, kimerizm tespiti, soy ve fenotipik çıkarım araştırmaları da YND teknolojileri sayesinde hızlı ve güvenilir bir şekilde yapılabilmektedir. Bu derleme YND teknolojilerinin adli kimliklendirme ve diğer adli uygulamalardaki yeri ve önemine odaklanmaktadır.

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The Role and İmportance of Next Generation Sequencing Technologies in Forensic Applications

Year 2024, Volume: 38 Issue: 3, 267 - 284, 31.12.2024

Abstract

The use of autosomal STR (short tandem repeat) analysis is now accepted as the gold standard in forensic identification worldwide. STR typing provides sufficient discrimination power for many forensic cases. Furthermore, additional markers, such as X and Y chromosome STR markers (X-STR and Y-STR) and mitochondrial DNA analysis, are employed in the identification of disaster victims, particularly in instances where there is a considerable loss of life, compromised body integrity, and a paucity of DNA samples, or when the samples are fragmented or mixed. The evaluation of epigenetic changes, such as DNA methylation patterns and miRNA analyses, is employed in the identification of body fluids, the separation of monozygotic twins and the determination of the time of death. In instances where the aforementioned forensic markers prove inadequate, next-generation sequencing (NGS) technologies have been employed in recent years. NGS is a technology that rapidly sequences the entire exome or genome, thereby enabling the acquisition of a comprehensive range of genomic data. In addition to forensic identification and body fluid identification, forensic entomological studies, chimerism detection, ancestry research and phenotypic inference studies can be carried out rapidly and reliably thanks to NGS technologies. The objective of this review is to examine the role and importance of NGS technologies in the context of forensic identification and other related forensic applications.

References

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  • Sultana GNN, Sultan MZ. Mitochondrial DNA and methods for forensic identification. J Forensic Sci Crimin Inves 2018;9(1):555755.
  • Al-Koofee DAF, Mubarak SMH. Genetic polymorphisms. The Recent Topics in Genetic Polymorphisms. eds: Çalışkan M, Erol O, Öz GC. BoD–Books on Demand; 2020:1-15
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  • Tekcan E, Tural Ş. AdliDNA Analizlerinde Güncel Moleküler Genetik Gelişmeler. Van Med J 2023;30(2):217-22.
  • Yang Y, Xie B, Yan J. Application of next-generation sequencing technology in forensic science. Genomics Proteomics Bioinformatics 2014;12(5):190-7.
  • Filoglu G, Sah I, Dogan M, Nalcaoglu SB, Bulbul ITO, Unsal T. Application of next generation sequencing in forensic science Yeni nesil dizilemenin adli bilimlerde kullanımı. Med 2017;6(1):157-62.
  • Clarke TH, Gomez A, Singh H, Nelson KE, Brinkac LM. Integrating the microbiome as a resource in the forensics toolkit. Forensic Sci Int Genet 2017;30:141-7.
  • Wong L-P, Ong RT-H, Poh W-T, Liu X, Chen P, Li R, et al. Deep whole-genome sequencing of 100 southeast Asian Malays. Am J Hum Genet 2013;92(1):52-66.
  • Hanson E, Ingold S, Haas C, Ballantyne J. Targeted multiplexed next generation RNA sequencing assay for tissue source determination of forensic samples. Forensic Sci Int Genet Supp Ser 2015;5:e441-e3.
  • Darcan C, Türkyılmaz O. Yeni Nesil Dizileme Teknolojisine Genel Bakış. Bilecik Şeyh Edebali Üniversitesi Fen Bilimleri Dergisi 2018;5(1):41-9.
  • Hu T, Chitnis N, Monos D, Dinh A. Next-generation sequencing technologies: An overview. Hum Immunol 2021;82(11):801-11.
  • Tytgat O, Van Nieuwerburgh F. Applications of nanopore sequencing for forensic analysis. Next Generation Sequencing (NGS) Technology in DNA Analysis: Academic Press; 2024. p. 85-98.
  • Yang TT, Zhang JR, Xie ZH, Ren ZL, Yan JW, Ni M. Nanopore sequencing of forensic short tandem repeats using QNome of Qitan Technology. Electrophoresis 2024;45:1535-45
  • Bruijns B, Tiggelaar R, Gardeniers H. Massively parallel sequencing techniques for forensics: A review. Electrophoresis 2018;39(21):2642-54.
  • Børsting C, Morling N. Next generation sequencing and its applications in forensic genetics. Forensic Sci Int Genet 2015;18:78-89.
  • Hunter P. Uncharted waters: Next-generation sequencing and machine learning software allow forensic science to expand into phenotype prediction from DNA samples. EMBO Rep 2018;19(3):e45810
  • Cusick MF, Clark L, Tu T, Goforth J, Zhang X, LaRue B, et al. Performance characteristics of chimerism testing by next generation sequencing. Hum Immunol 2022;83(1):61-9.
  • Topaloğlu T, Şener EF, Canatan H. Nöropsikiyatrik Hatalıklarda Yeni Nesil Sekans Teknolojisinin Kullanımı ve Güncel Yaklaşımlar. Sağlık Bilimleri Dergisi 2016;25(2):92-9.
  • Gettings KB, Kiesler KM, Faith SA, Montano E, Baker CH, Young BA, et al. Sequence variation of 22 autosomal STR loci detected by next generation sequencing. Forensic Sci Int Genet 2016;21:15-21.
  • Çağlayan AO. Yeni Nesil Dizileme Teknolojisinin Tıpta Kullanımı: Örnek Hastalık Grubu Olarak Nöregelişimsel Hastalıklar. Turkiye Klinikleri J Med Genet-Special Topics 2016;1(1):155-60.
  • Bredemeyer S, Roewer L, Willuweit S. Next generation sequencing of Y-STRs in father-son pairs and comparison with traditional capillary electrophoresis. Forensic Sci Res 2022;7(3):484-9.
  • Van Neste C, Vandewoestyne M, Van Criekinge W, Deforce D, Van Nieuwerburgh F. My-Forensic-Loci-queries (MyFLq) framework for analysis of forensic STR data generated by massive parallel sequencing. Forensic Sci Int Genet 2014;9:1-8.
  • Senst A, Caliebe A, Scheurer E, Schulz I. Validation and beyond: Next generation sequencing of forensic casework samples including challenging tissue samples from altered human corpses using the MiSeq FGx system. J Forensic Sci 2022;67(4):1382-98.
  • Shih SY, Bose N, Gonçalves ABR, Erlich HA, Calloway CD. Applications of probe capture enrichment next generation sequencing for whole mitochondrial genome and 426 nuclear SNPs for forensically challenging samples. Genes 2018;9(1):49.
  • Warshauer DH, Lin D, Hari K, Jain R, Davis C, LaRue B, et al. STRait Razor: a length-based forensic STR allele calling tool for use with second generation sequencing data. Forensic Sci Int Genet 2013;7(4):409-17.
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There are 96 citations in total.

Details

Primary Language Turkish
Subjects Forensic Biology
Journal Section Collection
Authors

Tuğba Tezcan 0000-0003-2216-4084

Mukaddes Asena Yıldırım This is me 0000-0003-0974-2492

Selin Özkan Kotiloğlu 0000-0002-2262-5613

Dilek Kaya-akyüzlü 0000-0002-3305-0587

Publication Date December 31, 2024
Submission Date March 6, 2024
Acceptance Date November 8, 2024
Published in Issue Year 2024 Volume: 38 Issue: 3

Cite

Vancouver Tezcan T, Yıldırım MA, Özkan Kotiloğlu S, Kaya-akyüzlü D. Adli Uygulamalarda Yeni Nesil Dizileme Teknolojilerinin Yeri ve Önemi. J For Med. 2024;38(3):267-84.
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