Abstract
Recently, it has been recognized that accessing information in the mtDNA coding region can provide additional forensic discrimination with respect to the standard typing of the D-loop region, augmenting the sometimes rather limited forensic power of mtDNA testing. Here, we discuss considerations relating to maximally effective approaches for recovering additional discrimination in the coding region, bearing in mind that (1) DNA quality and quantity in typical mtDNA casework usually restrict the amount of additional sequence that can be obtained, and (2) the need for additional discrimination primarily arises when common HV1/HV2 types are encountered. Most investigators have sought additional discrimination by sequencing short segments of coding region that are thought to be particularly variable. Unfortunately, efforts in this regard have generally failed to appreciate that most variation in the coding region is redundant with information already present in HV1/HV2 and have therefore overvalued the potential of this approach for providing additional discrimination. An alternative single nucleotide polymorphism-based approach [Int J Legal Med 118:137–146, 2004] has been to identify specific bases that provide resolution in specific common HV1/HV2 types (and related sequences). We investigate several highly relevant data sets wherein the latter approach performs appreciably better than sequencing selected short portions of the coding region. This is true even when only synonymous variation is targeted to minimize the potential for problems arising from discovery of mutations that have reportedly been related to disease.
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Acknowledgements
We thank John M. Butler of NIST for discussion and comments on the manuscript. The contribution of the U.S. National Institute of Standards and Technology is not subject to copyright. Certain commercial equipment, instruments, and materials are identified to specify experimental procedures as completely as possible. In no case does such identification imply a recommendation or endorsement by the NIST, nor does it imply that any of the materials, instruments, or equipment identified are necessarily the best available for the purpose. This work was supported by the National Institutes of Justice agreement 2003-IJ-R-029 with the NIST Office of Law Enforcement Standards and by a National Institutes of Justice grant 2000-IJ-CX-K010 to the American Registry of Pathology (T.J.P.). Points of view in this document are those of the authors and do not necessarily represent the official position or policies of the U.S. Department of Justice, the U.S. Department of Defense, or the U.S. Department of the Army.
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Coble, M.D., Vallone, P.M., Just, R.S. et al. Effective strategies for forensic analysis in the mitochondrial DNA coding region. Int J Legal Med 120, 27–32 (2006). https://doi.org/10.1007/s00414-005-0044-z
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DOI: https://doi.org/10.1007/s00414-005-0044-z