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                            Library & Multimedia
 Validation of mass spectrometry analysis of mitochondrial DNA
NCJ Number
              306013
Journal

*Forensic Science International Genetics Supplement Series* Volume: 2 Issue: 1 Dated: December 2009 Pages: 527-528
Author(s)
          Bruce Budowle;
                        Arthur J. Eisenberg;
                        Suzanne Gonzalez;
                        John V. Planz;
                        Kristin A. Sannes-Lowery;
                        Thomas A. Hall;
                        Jessica E. Paulsen;
                        Steven A. Hofstadler
Date Published

December 2009
Length
              2 pages
Annotation
              This project shows that electrospray ionization mass spectrometry (ESI-MS) has several advantages for mtDNA analysis including speed, sensitivity, and the ability to interrogate mixtures.
Abstract
              The analysis of mitochondrial DNA (mtDNA) is used routinely to assist in determining the source of old bones, teeth, hair shafts, and other challenged biological samples. Sequencing is the method of choice for typing mtDNA. However, the method is laborious, time consuming, costly, and currently not a practical approach for typing single nucleotide polymorphisms (SNPs) contained within the coding region of the mtDNA genome. Electrospray ionization mass spectrometry (ESI-MS) has several advantages for mtDNA analysis including speed, sensitivity, and the ability to interrogate mixtures. As with sequencing and unlike many other SNP-based approaches, individual polymorphic positions do not need to be specifically targeted, as all variation within amplified regions is assayed simultaneously. Since each amplicon is assayed as an individual component, the technique easily resolves length heteroplasmy and is capable of quantitatively analyzing heteroplasmic and mixed samples. The ESI-MS approach originally described for mtDNA analysis has been improved using the Ibis T5000TM and a 24-amplicon tiling format and validation studies are underway. Results from these studies support that the use of mass spectrometry is a robust and reliable method for mtDNA analysis that offers resolution approaching that of sequencing, the ability to deconvolve mixtures and analyze heteroplasmy effectively, and a sensitivity of detection equivalent to current methods, with at least an order of magnitude increased throughput and a reduction in cost. (Published abstract provided)
      
  
          Additional Details
Grant Number(s)
        2007-DN-BX-K200


  
  
        
  Agencies
        NIJ-Sponsored


  
  
        
  Publication Type
        Research (Applied/Empirical)


  
  
        
  Award
        The University of North Texas Center for Human Identification Project: To Perform Anthropological, mtDNA and STR Analysis on Unidentified Human Remains and Family Reference Samples for Entry into CODI
    
  
  
Date Published: December 1, 2009
    
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      PatentsRelated Topics
        
                DNA (Deoxyribonucleic Acid)
        Single nucleotide polymorphism (SNP)
        Mass spectrometry
        Mitochondrial DNA



  
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