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Sequence features of forensic core short tandem repeat loci.

Lei Miao1,2, Ke-Lai Kang1, Chi Zhang1

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Yi Chuan = Hereditas
|November 18, 2025
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Short tandem repeat (STR) sequence analysis reveals crucial genetic variations beyond length, enhancing forensic DNA identification. Next-generation sequencing provides deeper insights into STR polymorphisms for improved accuracy in criminal investigations and kinship analysis.

Keywords:
autosomal chromosomeforensic geneticssequence-based polymorphismshort tandem repeat

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Area of Science:

  • Forensic Genetics
  • Molecular Biology
  • Population Genetics

Background:

  • Short tandem repeats (STRs) are key genetic markers for forensic DNA identification, with existing databases primarily based on length polymorphisms.
  • Traditional capillary electrophoresis methods only detect length variations, missing critical sequence-based polymorphisms in repeat and flanking regions.
  • Sequence variations in STR primer binding sites can compromise genotyping accuracy, leading to allele dropout and reduced identification efficiency.

Purpose of the Study:

  • To systematically review sequence polymorphisms of 19 autosomal core STR loci using population data.
  • To summarize repeat region variations and analyze their patterns.
  • To present high-frequency flanking region variations in the Chinese population and discuss challenges in STR sequence analysis.

Main Methods:

  • Literature review focusing on sequence-based polymorphisms of core STR loci.
  • Analysis of population data to identify variations in repeat and flanking regions.
  • Synthesis of findings to provide a comprehensive overview of STR sequence characteristics.

Main Results:

  • Identified and summarized sequence variations within the repeat regions of 19 autosomal core STRs.
  • Analyzed patterns of sequence variation across different STR loci.
  • Documented high-frequency sequence variations in flanking regions specific to the Chinese population.

Conclusions:

  • A comprehensive understanding of STR sequence polymorphisms is vital for accurate individual identification, especially from trace DNA and mixed samples.
  • Next-generation sequencing technology significantly enhances the polymorphic information obtainable from STR loci, improving identification efficiency.
  • This review provides a valuable reference for STR sequence analysis, rare allele identification, and the development of advanced STR genotyping panels.