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Compound stutter in D2S1338 and D12S391.

August E Woerner1, Jonathan L King2, Bruce Budowle1

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Compound repeats in forensic STR loci like D2S1338 and D12S391 generate complex stutter patterns. Flanking sequences significantly influence stutter formation, impacting mixture interpretation in forensic genetics.

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Area of Science:

  • Forensic genetics
  • Population genetics
  • Molecular biology

Background:

  • Stutter artifacts in short tandem repeat (STR) analysis complicate DNA mixture interpretation.
  • Compound repeats, with multiple repeating motifs, present unique challenges due to potentially interdependent stutter variant formation.

Purpose of the Study:

  • To evaluate compound stutter formation in STR loci D2S1338 and D12S391.
  • To assess the influence of flanking variations and inter-motif interactions on stutter rates.
  • To develop a predictive model for compound stutter.

Main Methods:

  • Analysis of stutter in compound STR loci.
  • Multivariate multiple linear regression (MMLR) to model stutter formation.
  • Assessment of flanking sequence effects and interactions between repeat motifs.

Main Results:

  • Stutter product formation is not solely dependent on the uninterrupted stretch (US) of a repeat motif.
  • Adjacent nucleotides, including those from other motifs, influence stutter rates.
  • MMLR successfully estimated the impact of these factors and enabled compound stutter prediction.

Conclusions:

  • Compound stutter is influenced by factors beyond the primary repeat motif, including flanking sequences.
  • Understanding these influences is crucial for improving DNA mixture interpretation and probabilistic genotyping.
  • The developed two-dimensional stutter prediction model warrants further investigation for next-generation sequencing data.