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                            Library & Multimedia
 The population genetics characteristics of a 90 locus panel of microhaplotypes
NCJ Number
              303193
Journal

*HUMAN GENETICS* Volume: 140 Dated: October 2021 Pages: 1753-1773
Author(s)
          Andrew J. Pakstis;
                        Neeru Gandotra;
                        William C. Speed;
                        Michael Murtha;
                        Curt Scharfe;
                        Kenneth K. Kidd
Date Published

October 2021
Length
              21 pages
Annotation
              This study analyzed information for 90 microhaplotype loci in 4,009 individuals from 79 world populations in 6 major biogeographic regions.
Abstract
              Single-nucleotide polymorphisms (SNPs) and small genomic regions with multiple SNPs (microhaplotypes, MHs) are rapidly emerging as novel forensic investigative tools to assist in individual identification, kinship analyses, ancestry inference, and deconvolution of DNA mixtures. The current study included multiplex microhaplotype sequencing (mMHseq) data analyzed for 524 individuals from 16 populations and genotype data for 3,485 individuals from 63 populations curated from public repositories. Analyses of the 79 populations revealed excellent characteristics for this 90-plex MH panel for various forensic applications achieving an overall average effective number of allele values (Ae) of 4.55 (range 1.04–19.27) for individualization and mixture deconvolution. Population-specific random match probabilities ranged from a low of 10–115 to a maximum of 10–66. Mean informativeness (In) for ancestry inference was 0.355 (range 0.117–0.883). 65 novel SNPs were detected in 39 of the MHs using mMHseq. Of the 3018 different microhaplotype alleles identified, 1,337 occurred at frequencies > 5 percent in at least one of the populations studied. The 90-plex MH panel enables effective differentiation of population groupings for major biogeographic regions as well as delineation of distinct subgroupings within regions. Open-source, web-based software is available to support validation of this technology for forensic case work analysis and to tailor MH analysis for specific geographical regions. (publisher abstract modified)
      
  
          Additional Details
Grant Number(s)
        2018-75-CX-0041


  
  
        
  Agencies
        NIJ-Sponsored


  
  
        
  Publication Type
        Research (Applied/Empirical)


  
  
        
  Award
        Better Forensic Markers: Microhaplotypes and Ancestry SNPs
    
  
  
Date Published: October 1, 2021
    
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        Trace DNA



  
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