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Polymorphism refers to the existence of a drug substance in multiple crystalline forms, known as polymorphs. Recently, this term has been expanded to include solvates (forms containing a solvent), amorphous forms (non-crystalline forms), and desolvated solvates (forms from which the solvent has been removed).
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Genotyping polymorphic microhaplotype markers through the Illumina® MiSeq platform for forensics.

Jing Zhu1, Meili Lv2, Nan Zhou3

  • 1Department of Forensic Genetics, West China School of Basic Medical Sciences and Forensic Medicine, Sichuan University, Chengdu 610041, Sichuan, China.

Forensic Science International. Genetics
|November 26, 2018
PubMed
Summary

New microhaplotype markers offer enhanced forensic capabilities. These novel genetic markers provide higher polymorphism than traditional markers, aiding in individual identification and ancestry inference for forensic science.

Keywords:
Genetic markerIndividual identificationMassively parallel sequencing (MPS)MicrohaplotypeSingle nucleotide polymorphisms (SNPs)

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Area of Science:

  • Forensic genetics
  • Population genetics
  • Molecular biology

Background:

  • Current forensic genetic markers like Short Tandem Repeats (STRs) and Single Nucleotide Polymorphisms (SNPs) have limitations.
  • STRs suffer from stutter and high mutation rates, while SNPs exhibit low polymorphism.
  • These limitations can impede case resolution in forensic investigations.

Purpose of the Study:

  • To screen and validate novel microhaplotype markers for forensic applications.
  • To develop a standardized nomenclature and genotyping tool for these markers.
  • To assess the forensic parameters and population structure utility of the identified microhaplotypes.

Main Methods:

  • Screening of microhaplotype loci based on defined criteria.
  • Sequencing of selected markers using the Illumina MiSeq platform.
  • Development of a Perl-based tool (FLfinder) for microhaplotype genotyping.
  • Analysis of forensic parameters and population structure using 2504 samples from the 1000 Genomes Project.

Main Results:

  • Thirteen highly polymorphic microhaplotype loci were identified and reported.
  • Twelve loci demonstrated high average allele coverage ratios (ACR) ranging from 0.72 to 0.92.
  • Population structure analysis revealed 5 distinct continental groupings among the 2504 samples.

Conclusions:

  • Microhaplotype markers represent a promising supplement to existing forensic genetic marker panels.
  • The identified loci exhibit high polymorphism suitable for individual identification and ancestry inference.
  • These findings provide a new valuable tool for future forensic practice.