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Development of a multiplex panel with 31 multi-allelic InDels for forensic DNA typing

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Abstract

Insertion/Deletion (InDel) polymorphic genetic markers are abundant in human genomes. Diallelic InDel markers have been widely studied for forensic purposes, yet the low polymorphic information content limits their application and current InDel panels remain to be improved. In this study, multi-allelic InDels located out of low complexity sequence regions were selected in the datasets from East Asian populations, and a multiplex amplification system containing 31 multi-allelic InDel markers and the Amelogenin marker (FA-HID32plex) was constructed and optimized. The preliminary study on sensitivity, species specificity, inhibitor tolerance, mixture resolution, and the detection of degraded samples demonstrates that the FA-HID32plex is highly sensitive, specific, and robust for traces and degraded samples. The combined power of discrimination (CPD) of 31 multi-allelic InDel markers was 0.999 999 999 999 999 999 85, and the cumulative probability of exclusion (CPE) was 0.999 920 in a Chinese Han population, which indicates a high discrimination power. Altogether, the FA-HID32plex panel could provide reliable supplements or stand-alone information in individual identification and paternity testing, especially for challenging samples.

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Data sharing not applicable to this article as no datasets were generated or analyzed during the current study.

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Acknowledgements

This study was supported by grants from the National Natural Science Fund of China (82171875 and 81901925).

Funding

This study was supported by grants from the National Natural Science Fund of China (82171875 and 81901925).

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Author notes

  1. Yining Yao and Kuan Sun contributed equally to this work.

Authors and Affiliations

  1. Department of Forensic Medicine, School of Basic Medical Sciences, Fudan University, 138 Yixueyuan Road, Shanghai, 200032, China

    Yining Yao, Kuan Sun, Qinrui Yang, Zhihan Zhou, Jinglei Qian, Zhimin Li, Chengchen Shao, Xiaoqin Qian & Jianhui Xie

  2. Department of Fetal Medicine and Prenatal Diagnosis Center, Shanghai First Maternity and Infant Hospital, Tongji University School of Medicine, 2699 West Gaoke Rd, 201204, Shanghai, China

    Kuan Sun

  3. Shanghai Key Laboratory of Maternal Fetal Medicine, Shanghai First Maternity and Infant Hospital, School of Medicine, Tongji University, Shanghai, 200092, China

    Kuan Sun

  4. Department of Biochemistry and Molecular Biology, School of Basic Medical Sciences, Fudan University, Shanghai, 200032, China

    Qiqun Tang

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  1. Yining Yao
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Correspondence to Jianhui Xie.

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All the procedures performed in studies involving human participants were in accordance with the ethical standards of the Ethics Committee of School of Basic Sciences, Fudan University (NO.2019-C015) and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards. All participants gave their informed consent and their right to privacy was protected.

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Supplementary information

Supplementary Fig. S1

Profiles of ultrasonically degraded samples at different levels amplified by the PowerPlex® 21 system. Artificially degraded samples with peak fragment lengths at <150 bp (a), 150 bp (b), 200 bp (c), 300 bp (d), 400 bp (e), and control group with no ultrasound treatment (f) were adopted. (PNG 1771 kb)

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Yao, Y., Sun, K., Yang, Q. et al. Development of a multiplex panel with 31 multi-allelic InDels for forensic DNA typing. Int J Legal Med 137, 1–12 (2023). https://doi.org/10.1007/s00414-022-02907-w

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