Rapid screening of mtDNA coding region SNPs for the identification of west European Caucasian haplogroups
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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.
KeywordsCaucasian mtDNA haplogroups Phylogenetic SNPs Multiplex SNP typing Primer extension method Forensic science
We gratefully thank Harald Niederstätter (Institute of Legal Medicine, University of Innsbruck, Austria) for providing the control region sequences and for helpful comments. We also acknowledge the technical advice and valuable discussions of Mike D. Coble, Rebecca S. Hamm (both Armed Forces DNA Identification Laboratory, Rockville, MD) and Peter M. Vallone (National Institute of Standards and Technology, Gaithersburg, MD). This research was supported by a research grant (Nr. 14031/89-02) from the University of Innsbruck, Austria.
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