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Development and application of a nonbinary SNP-based microhaplotype panel for paternity testing involving close

Shule Sun1, Ying Liu1, Jienan Li1

  • 1Department of Forensic Medicine, School of Basic Medical Sciences, Central South University, Changsha, 410013, Hunan, PR China.

Forensic Science International. Genetics
|February 3, 2020
PubMed
Summary

This study introduces a novel microhaplotype panel for advanced paternity testing, offering high accuracy in identifying biological relationships, especially in complex cases involving close relatives. The panel demonstrates superior performance compared to traditional methods.

Keywords:
Close relativesMicrohaplotypeNonbinary SNPPaternity tests

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Area of Science:

  • Forensic Genetics
  • Human Genetics

Background:

  • Paternity testing involving close relatives presents challenges in forensic genetics.
  • Microhaplotypes are emerging as powerful genetic markers due to low mutation rates and high discrimination power.

Purpose of the Study:

  • To establish and evaluate a microhaplotype panel for paternity testing.
  • To assess the panel's effectiveness in cases involving close relatives and compare it with existing methods.

Main Methods:

  • Selected 30 microhaplotypes (including non-binary SNPs) from various sources.
  • Genotyped 54 unrelated individuals and 53 samples from six extended families.
  • Constructed pedigrees for parent-child duos, non-biological parent-child duos, and full sibling pairs.

Main Results:

  • The microhaplotype panel achieved high effective number of alleles (mean Ae=3.91) and heterozygosity (mean=0.74).
  • Demonstrated exceptional combined power of discrimination (CPD) and cumulative probability of exclusion (CPE).
  • Showed superior performance in paternity index (CPI) calculations compared to traditional STR kits, particularly in excluding close relatives.

Conclusions:

  • The developed microhaplotype panel is highly effective for paternity testing, especially in complex cases with close relatives or STR mutations.
  • The panel offers significant advantages over traditional short tandem repeat (STR) loci for accurate relationship determination.