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Mutability analysis towards 21 STR loci included in the AGCU 21 + 1 kit in Chinese Han population

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Abstract

To further illustrate the mutation traits of 21 autosomal STR loci involved in the newly developed AGCU 21 + 1 kit, randomly selected 485 trios were focused on. We have previously confirmed the biological father-mother-child relationships of these trios. Then matters of mutation rates, steps, and origins of the 21 STR loci were statically analyzed. Results showed 35 mutation events occurred at 16 STR loci of the panel during 20,370 meiosis, and the locus-specific mutation rates ranged from 0.000 to 1.134% (D3S4529), with an overall mutation rate of 1.72 × 10−3 (95%CI, 1.20–2.39 × 10−3). Mutation origins exhibited slight discrepancy between male and female germlines, 18 of the 35 mutation events were verified to be contributed by fathers and 13 by mothers, with origins of the remaining 4 events hardly to be assigned. Furthermore, 77.14% of the mutations were one-step mutation. Currently, portraits on mutability of the STR loci involved in the AGCU 21 + 1 panel were barely reported. In view of this, we conclude our data will enrich the mutation information of the 21 STR loci and provide valuable suggestions in calculating likelihood ratios for mutation-involved parental testing cases.

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Funding

This project was supported by the National Natural Science Foundation of China (NSFC, No. 81525015), GDUPS (2017).

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Authors and Affiliations

  1. Department of Forensic Genetics, School of Forensic Medicine, Southern Medical University, Guangzhou, People’s Republic of China

    Qiong Lan, Tong Xie, Yating Fang, Yongsong Zhou & Bofeng Zhu

  2. Key Laboratory of Shaanxi Province for Craniofacial Precision Medicine Research, College of Stomatology, Xi’an Jiaotong University, Xi’an, People’s Republic of China

    Qiong Lan, Yuxin Guo & Bofeng Zhu

  3. Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital, Zhengzhou University, Zhengzhou, People’s Republic of China

    Hongdan Wang

  4. Institute of Brain and Behavioral Science, College of Life Sciences, Shaanxi Normal University, Xi’an, People’s Republic of China

    Chunmei Shen

  5. Clinical Research Center of Shaanxi Province for Dental and Maxillofacial Diseases, College of Stomatology, Xi’an Jiaotong University, Xi’an, People’s Republic of China

    Yuxin Guo & Bofeng Zhu

  6. Department of Forensic Medicine, Nanjing Medical University, Nanjing, People’s Republic of China

    Caiyong Yin

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  1. Qiong Lan
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  2. Hongdan Wang
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  8. Yongsong Zhou
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  9. Bofeng Zhu
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Correspondence to Bofeng Zhu.

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Lan, Q., Wang, H., Shen, C. et al. Mutability analysis towards 21 STR loci included in the AGCU 21 + 1 kit in Chinese Han population. Int J Legal Med 132, 1287–1291 (2018). https://doi.org/10.1007/s00414-018-1873-x

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  • DOI: https://doi.org/10.1007/s00414-018-1873-x

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