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02.06.2023 | Original Article

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

verfasst von: Gonul Filoglu, Arzu Duvenci, Sebahat Tas, Huseyin Karadayi, Faruk Asicioglu, Ozlem Bulbul

Erschienen in: Forensic Science, Medicine and Pathology

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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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Literatur
4.
Zurück zum Zitat Romanini C, Catelli ML, Borosky A, Pereira R, Romero M, Puerto MS, Phillips C, Fondevila M, Freire A, Santose C, Carracedo A, Lareue MV, Gusmao L, Vullo CM. Typing short amplicon binary polymorphisms: supplementary SNP and Indel genetic information in the analysis of highly degraded skeletal remains. Forensic Sci Int Genetics. 2012;6(4):469–76. https://doi.org/10.1016/j.fsigen.2011.10.006.CrossRef Romanini C, Catelli ML, Borosky A, Pereira R, Romero M, Puerto MS, Phillips C, Fondevila M, Freire A, Santose C, Carracedo A, Lareue MV, Gusmao L, Vullo CM. Typing short amplicon binary polymorphisms: supplementary SNP and Indel genetic information in the analysis of highly degraded skeletal remains. Forensic Sci Int Genetics. 2012;6(4):469–76. https://​doi.​org/​10.​1016/​j.​fsigen.​2011.​10.​006.CrossRef
9.
Zurück zum Zitat Montgomery SB, Goode DL, Kvikstad E, Albers CA, Zhang ZD, Mu XJ, Ananda G, Howie B, Karczewski KJ, Smith KS, Anaya V, Richardson J, Davis DG, MacArthur A, Sidow L, Duret M, Gerstein KD, Makova J, Marchini G, McVean G. Lunter and 1000 Genomes Project Consortium, The origin, evolution, and functional impact of short insertion-deletion variants identified in 179 human genomes. Genome Res. 2013;23(5):749–761. https://doi.org/10.1101/gr.148718.112. Montgomery SB, Goode DL, Kvikstad E, Albers CA, Zhang ZD, Mu XJ, Ananda G, Howie B, Karczewski KJ, Smith KS, Anaya V, Richardson J, Davis DG, MacArthur A, Sidow L, Duret M, Gerstein KD, Makova J, Marchini G, McVean G. Lunter and 1000 Genomes Project Consortium, The origin, evolution, and functional impact of short insertion-deletion variants identified in 179 human genomes. Genome Res. 2013;23(5):749–761. https://​doi.​org/​10.​1101/​gr.​148718.​112.
15.
Zurück zum Zitat Li C, Zhang S, Li L, Chen J, Liu Y, Zhao S. Selection of 29 highly informative InDel markers for human identification and paternity analysis in Chinese Han population by the SNPlex genotyping system. Mol Biol Rep. 2012;39(3):3143–3152. https://doi.org/10.1007/s11033-011-1080-z. Li C, Zhang S, Li L, Chen J, Liu Y, Zhao S. Selection of 29 highly informative InDel markers for human identification and paternity analysis in Chinese Han population by the SNPlex genotyping system. Mol Biol Rep. 2012;39(3):3143–3152. https://​doi.​org/​10.​1007/​s11033-011-1080-z.
29.
Zurück zum Zitat Romanini C, Catelli ML, Borosky A, Pereira R, Romero M, Puerto MS, Phillips C, Fondevila M, Freire A, Santos C, Carracedo A,Lareu MV, Gusmao L, Vullo CM. Typing short amplicon binary polymorphisms: supplementary SNP and Indel genetic information in the analysis of highly degraded skeletal remains. Forensic Sci Int Genetics. 2012;6.4:469–476. https://doi.org/10.1016/j.fsigen.2011.10.006. Romanini C, Catelli ML, Borosky A, Pereira R, Romero M, Puerto MS, Phillips C, Fondevila M, Freire A, Santos C, Carracedo A,Lareu MV, Gusmao L, Vullo CM. Typing short amplicon binary polymorphisms: supplementary SNP and Indel genetic information in the analysis of highly degraded skeletal remains. Forensic Sci Int Genetics. 2012;6.4:469–476. https://​doi.​org/​10.​1016/​j.​fsigen.​2011.​10.​006.
32.
Zurück zum Zitat Pinell TL. A comparison of the Powerplex® 16 HS System and Identifiler® Plus Kit for forensic casework samples. University of North Texas Health Science Center at Fort Worth. 2011. Pinell TL. A comparison of the Powerplex® 16 HS System and Identifiler® Plus Kit for forensic casework samples. University of North Texas Health Science Center at Fort Worth. 2011.
Metadaten
Titel
Development of a multiplex panel with 36 insertion/deletion markers (InDel) for individual identification
verfasst von
Gonul Filoglu
Arzu Duvenci
Sebahat Tas
Huseyin Karadayi
Faruk Asicioglu
Ozlem Bulbul
Publikationsdatum
02.06.2023
Verlag
Springer US
Erschienen in
Forensic Science, Medicine and Pathology
Print ISSN: 1547-769X
Elektronische ISSN: 1556-2891
DOI
https://doi.org/10.1007/s12024-023-00652-z

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