Abstract
Capillary electrophoresis is widely used to study short tandem repeats (STRs) in forensic genetics. However, next-generation sequencing platforms have become a new strategy for forensic DNA typing. In this study, we report a false four-step STR mutation between an alleged father (AF) and child in a paternity case. A total of 23 autosomal STR loci were evaluated using the Huaxia™ Platinum and Goldeneye™ 20A kits, revealing a single mismatch in D8S1179 between the AF (10/10) and the male child (14/14). Additional Y-STR typing of the AF and child was performed, and the results were consistent with those based on 27 Y-STR loci. To further confirm the experimental results, we sequenced the individuals using the MiSeq FGx system and detected 10/15 unbalanced alleles in the D8S1179 locus of the AF and 14/15 unbalanced alleles in the D8S1179 locus of the child. Sanger sequencing revealed that both the AF and child had the C→G point mutation in the primer binding region of D8S1179 resulting in allelic dropout. Therefore, the verification of STR typing by different sequencing systems is helpful for the interpretation of results in cases of multistep STR mutations.
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Funding
This work was supported by the Student’s Platform for Innovation and Entrepreneurship Training Program (S202010443001, cx2020001), The Project of Teaching Reform Research for Shandong Province Undergraduate University (M2020069), and the Supporting Fund for Teachers’ Research of Jining Medical University (JYFC2018FY003).
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Approval was obtained from the ethics committee of Jining Medical University (No. JNMC-2021-YX-008). The procedures used in this study adhere to the tenets of the Declaration of Helsinki.
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Wang, Y., Hou, X., Liu, Q. et al. Verification of a loss of heterozygosity at the D8S1179 locus in a paternity case by the MiSeq FGx system. Int J Legal Med 137, 1407–1412 (2023). https://doi.org/10.1007/s00414-023-03043-9
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DOI: https://doi.org/10.1007/s00414-023-03043-9