International Journal of Legal Medicine

, Volume 117, Issue 5, pp 291–298

Rapid screening of mtDNA coding region SNPs for the identification of west European Caucasian haplogroups

  • Anita Brandstätter
  • Thomas J. Parsons
  • Walther Parson
Original Article

DOI: 10.1007/s00414-003-0395-2

Cite this article as:
Brandstätter, A., Parsons, T.J. & Parson, W. Int J Legal Med (2003) 117: 291. doi:10.1007/s00414-003-0395-2


This work presents a selection of 16 SNPs from the coding region of the human mitochondrial DNA. The selected markers are used for the assignment of individuals to one of the nine major European Caucasian mitochondrial haplogroups. The selected SNPs are targeted in two multiplex systems, via the application of the SNaPshot kit, a multiplex method based on the dideoxy single-base extension of unlabeled oligonucleotide primers. The method is conceived as a rapid screening technique prior to sequencing analysis, in order to eliminate multiple suspects from an inquiry or to discriminate between stains in a high volume casework example. Moreover, the ability to assign an unknown sample to an mtDNA type of known Caucasian origin could be of probative value in some investigations. A database of 277 Austrian Caucasians has been constructed, and the probability of a chance match between two unrelated individuals is calculated as 11.4%. This novel multiplex PCR amplification and typing system for mtDNA coding region SNPs promises to be a convenient and informative new DNA profiling system in the forensic field.


Caucasian mtDNA haplogroups Phylogenetic SNPs Multiplex SNP typing Primer extension method Forensic science 

Copyright information

© Springer-Verlag 2003

Authors and Affiliations

  • Anita Brandstätter
    • 1
  • Thomas J. Parsons
    • 2
  • Walther Parson
    • 1
  1. 1.Institute of Legal MedicineUniversity of Innsbruck InnsbruckAustria
  2. 2.Armed Forces DNA Identification LaboratoryArmed Forces Institute of PathologyRockvilleUSA

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