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CPI distribution and cutoff values for duo kinship testing.

Chang-En Pu1, Adrian Linacre

  • 1Scientific and Technical Research Center, Ministry of Justice, Investigation Bureau, Taipei, Taiwan, R.O.C. pu_macros@yahoo.com.tw

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DNA testing for paternity and unidentified remains can yield false inclusions in duo cases. This study proposes kinship-matching criteria using Combined Paternity Index (CPI) to improve accuracy in these challenging scenarios.

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Area of Science:

  • Forensic Science
  • Genetics
  • Molecular Biology

Background:

  • Standard DNA identification uses 13 short tandem repeat (STR) loci, as in the Combined DNA Index System (CODIS), offering high accuracy in paternity testing.
  • False inclusions can occur in duo cases (mother-child or child-relative) and unidentified human remains cases with limited relatives.
  • Taiwan's National Unidentified Human Remains Database utilizes CODIS 13 STR for family identification.

Purpose of the Study:

  • To evaluate the frequency of false inclusions in large-scale DNA databases.
  • To develop and validate methods for improving kinship estimation in challenging familial DNA cases.
  • To establish reliable Combined Paternity Index (CPI) cutoff values for first-degree relative identification.

Main Methods:

  • Analysis of 499,500 DNA datasets for 13 STR CODIS loci to identify false inclusions.
  • Simulation of partial DNA profiles to model degradation and mutation.
  • Evaluation of 431 real duo cases using sensitivity and specificity analyses.
  • Determination of CPI cutoff values for kinship matching based on allele-sharing loci.

Main Results:

  • A false inclusion rate of 0.086% (431 cases) was observed where all 13 loci shared at least one allele.
  • Simulated partial profiles mimicked real-world degradation and mutation effects.
  • Four distinct kinship-matching scenarios with CPI cutoff values were identified for allele-sharing loci exceeding 11.

Conclusions:

  • The study quantifies false inclusion rates in large DNA databases, highlighting challenges in duo cases.
  • Proposed CPI cutoff values enhance confidence in determining first-degree relatives, especially with partial DNA profiles.
  • These findings support improved accuracy in forensic DNA identification and paternity testing within familial contexts.