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Development of a multiplex panel with 36 insertion/deletion markers (InDel) for individual identification

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Abstract

In recent years, the insertion/deletion (InDel) polymorphism has become a preferred genetic marker in forensic genetics due to its low mutation rates and small amplicon sizes. In this study, a 36-InDelplex identification panel, consisting of autosomal 34 InDel loci, 1 Y InDel locus, and amelogenin, was developed, and gene frequencies in the Turkish population were determined. The loci of the InDel panel with global minimum allele frequencies (MAF) ≥ 0.4 were selected from the 1000 Genomes Project Phase 3 data. The amplicon sizes of the loci were designed in the range of 69-252 bp. In the validation study of the developed panel, analysis threshold, dynamic range, sensitivity, stochastic threshold, inhibitor tolerance, and reproducibility parameters were studied by following the Scientific Working Group on DNA Analysis Methods (SWGDAM) guidelines. The sensitivity studies indicated that complete and reliable InDel profiles could be obtained with 0.25 ng of DNA. A population study was evaluated using 250 samples from Turkey. The mean observed heterozygosity ratio (Ho) of all loci was 0.48. The combined discrimination power (CPD) is 0.999999999990867 and the combined exclusion probability (CPE) was 0.9930. The population comparison was also made using Turkish and the five major populations from the 1000 Genomes Phase 3 populations’ data (Africa, Europe, East Asia, South Asia, and America). In conclusion, the results showed that the 36-InDelplex panel is a reliable, sensitive, and accurate system that is suitable for human identification and population genetics purposes.

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Data availability

The data that support the findings of this study are available from the corresponding author, [OB], upon request.

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Acknowledgments

Special thanks are due to the many hundreds of individuals who volunteered to give blood and saliva samples.

Funding

This study was supported by TÜBİTAK with project number 217S586 in the 1005 New Ideas and Products Research Support program. GF, OB, HK and FA have received this grand.

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Authors and Affiliations

  1. Institute of Forensic Science and Legal Medicine, Istanbul University- Cerrahpasa, 34500, Istanbul, Turkey

    Gonul Filoglu, Arzu Duvenci, Sebahat Tas, Huseyin Karadayi, Faruk Asicioglu & Ozlem Bulbul

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  1. Gonul Filoglu
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  2. Arzu Duvenci
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Contributions

Gonul Filoglu and Ozlem Bulbul contributed to the study conception and design. Material preparation, data collection and analysis were performed by Arzu Duvenci, Sebahat Tas and Huseyin Karadayi. The first draft of the manuscript was written by Arzu Duvenci, Sebahat Tas and Gonul Filoglu and all authors commented on previous versions of the manuscript. All authors read and approved the final manuscript.

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Correspondence to Ozlem Bulbul.

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Ethical approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the Clinical Research Ethics Committee of Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty (May 20, 2016, number 86669574-604.02.01-182593), and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. 250 healthy, Turkish citizens, who were not related to each other, were obtained informed consent.

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Filoglu, G., Duvenci, A., Tas, S. et al. Development of a multiplex panel with 36 insertion/deletion markers (InDel) for individual identification. Forensic Sci Med Pathol (2023). https://doi.org/10.1007/s12024-023-00652-z

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