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Updated: Apr 6, 2026

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Hidden Variation in Microsatellite Loci: Utility and Implications for Forensic DNA Analysis.

J V Planz1, T A Hall2

  • 1Department of Forensic and Investigative Genetics, University of North Texas Health Science Center, Fort Worth, TX, USA. John.Planz@unthsc.edu.

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Forensic short tandem repeat (STR) analysis currently uses operationally defined alleles. Deeper biological insights reveal population-level variations missed by current methods, crucial for relationship testing.

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Area of Science:

  • Forensic genetics
  • Population genetics
  • Molecular biology

Background:

  • Short tandem repeat (STR) analysis is the forensic DNA examination standard.
  • Current methods do not resolve underlying biological variations in STR alleles.

Purpose of the Study:

  • To explore the biological nature of STR alleles.
  • To examine allele distributions in routinely used STR loci.
  • To discuss unobservable allelic features with current methods.

Main Methods:

  • Review of existing STR typing procedures (PCR amplification, fragment analysis).
  • Analysis of allele designations and their biological versus operational definitions.

Main Results:

  • Many standardized STR loci have complex repeat structures or nucleotide variations.
  • These variations lead to increased population stratification.
  • Current methods lack the resolution to discern these finer allelic polymorphisms.

Conclusions:

  • STR allele designation is currently operational, not biological.
  • Understanding biological allele nature is vital for relationship testing.
  • Enhanced allelic discrimination offers advantages in forensic and relationship testing.