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

Anita Brandstätter1, Thomas J. Parsons2 and Walther Parson1

(1) Institute of Legal Medicine, University of Innsbruck, Müllerstrasse 44, 6020 Innsbruck, Austria
(2) Armed Forces DNA Identification Laboratory, Armed Forces Institute of Pathology, Building 101 1413 Research Boulevard, Rockville, MD 20850, USA

Walther Parson
Email: Walther.Parson@uibk.ac.at
Phone: +43-512-507-3303
Fax: +43-512-507-2764

Received: 20 May 2003 Accepted: 23 June 2003 Published online: 21 August 2003

Abstract 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.