Extended guidelines for mtDNA typing of population data in forensic science

Parson,W.; Bandelt,H.J.; Mitochondrial DNA analysis has become a vital niche in forensic science as it constitutes a powerful technique for low quality and low quantity DNA samples. For the forensic field it is important to employ standardized procedures based on scientific grounds, in order to have mtDNA evidence be accepted in court. Here, we modify and extend recommendations that were spelled out previously in the absence of solid knowledge about the worldwide phylogeny. [Read More]

Finnish mitochondrial DNA HVS-I and HVS-II population data

Hedman,M.; Brandstätter,A.; Pimenoff,V.; Sistonen,P.; Palo,J.U.; Parson,W.; Sajantila,A.; We have analyzed the two hypervariable regions HVS-I and HVS-II of 200 Finnish male individuals for forensic purposes. The distribution of the haplotypes within Finland was determined by the geographical knowledge of the donors’ maternal ancestors. In our population sample, we identified 135 different mtDNA haplotypes. Different mtDNA sequences were further divided to haplogroups using the EMPOP software. The most common haplogroups were H (40. [Read More]

Forensic DNA fingerprinting by liquid chromatography - electrospray ionization mass spectrometry

Oberacher,H.; Parson,W.; The determination of the molecular mass of a DNA sequence has several benefits over conventional fragment-length analysis that are advantageous to the forensic field: (i) sequence variation is captured that increases the power of discrimination compared with that obtained by conventional fragment-length analysis. First experiments showed that this increase makes up to 20%-30% for STR analysis. The new technical approach does not invalidate established developments and data, but adds to this information with additional discriminative categories. [Read More]

Forensic validation of the SNPforID 52-plex assay

Musgrave-Brown,E.; Ballard,D.; Balogh,K.; Bender,K.; Berger,B.; Bogus,M.; Borsting,C.; Brion,M.; Fondevilla,M.; Harrison,C.; Oguzturun,C.; Parson,W.; Phillips,C.; Proff,C.; Ramos-Luis,E.; Sanchez,J.J.; Diz,P.S.; Rey,B.S.; Stradmann-Bellinghausen,B.; Thacker,C.; Carracedo,A.; Morling,N.; Scheithauer,R.; Schneider,P.M.; Syndercombe-Court,; The advantages of single nucleotide polymorphism (SNP) typing in forensic genetics are well known and include a wider choice of high-throughput typing platforms, lower mutation rates, and improved analysis of degraded samples. However, if SNPs are to become a realistic supplement to current short tandem repeat (STR) typing methods, they must be shown to successfully and reliably analyse the challenging samples commonly encountered in casework situations. [Read More]

Generating population data for the EMPOP database - an overview of the mtDNA sequencing and data evaluation processes considering 273 Austrian control region sequences as example

Brandstätter,A.; Niederstätter,H.; Pavlic,M.; Grubwieser,P.; Parson,W.; The European DNA profiling group (EDNAP) mtDNA population database (EMPOP) is an international collaborative project between DNA laboratories performing mtDNA analysis and the DNA laboratory of the Institute of Legal Medicine (GMI) in Innsbruck, Austria. The goal is to set up a directly accessible mtDNA population database, which can be used in routine forensic casework for frequency investigations. Here we describe a safe laboratory scheme involving electronical data handling and computer-aided data transfer, which help to minimize errors originating from potential sample mix-up, data misinterpretation and incorrect transcription. [Read More]