Identification of West Eurasian mitochondrial haplogroups by mtDNA SNP screening: results of the 2006-2007 EDNAP collaborative exercise

Parson,W.; Fendt,L.; Ballard,D.; Borsting,C.; Brinkmann,B.; Carracedo,A.; Carvalho,M.; Coble,M.D.; Real,F.C.; Desmyter,S.; Dupuy,B.M.; Harrison,C.; Hohoff,C.; Just,R.; Kramer,T.; Morling,N.; Salas,A.; Schmitter,H.; Schneider,P.M.; Sonntag,M.L.; Vallone,P.M.; Brandstätter,A.; The European DNA Profiling (EDNAP) Group performed a collaborative exercise on a mitochondrial (mt) DNA screening assay that targeted 16 nucleotide positions in the coding region and allowed for the discrimination of major west Eurasian mtDNA haplogroups. The purpose of the exercise was to evaluate the stability and reproducibility of the self-developed multiplex-PCR and multiplex-single base extension kit by blind-testing saliva and hair shaft samples provided by the organizing laboratory. [Read More]

Increased forensic efficiency of DNA fingerprints through simultaneous resolution of length and nucleotide variability by high-performance mass spectrometry

Oberacher,H.; Pitterl,F.; Huber,G.; Niederstätter,H.; Steinlechner,M.; Parson,W.; Short tandem repeat (STR) typing is the most powerful method for determining the origin of a sample for a number of molecular disciplines such as medical genetics, population genetics, tumor analysis, transplantation medicine, or forensic crime scene analysis. STR alleles are routinely differentiated based upon their fragment size by electrophoresis under denaturing conditions, which does not take nucleotide variability into consideration. This simplification leads to loss of biological information as the nature of the individual sequence motifs that build an STR is not described. [Read More]

Italian mitochondrial DNA database: results of a collaborative exercise and proficiency testing

Turchi,C.; Buscemi,L.; Previderè,C.; Grigniani,P.; Brandstätter,A.; Achilli,A.; Parson,W.; Tagliabracci,A.; Ge.F.I.Group; This work is a review of a collaborative exercise on mtDNA analysis undertaken by the Italian working group (Ge.F.I.). A total of 593 samples from 11 forensic genetic laboratories were subjected to hypervariable region (HVS-I/HVS-II) sequence analysis. The raw lane data were sent to MtDNA Population Database (EMPOP) for an independent evaluation. For the inclusion of data for the Italian database, quality assurance procedures were applied to the control region profiles. [Read More]

Mitochondrial control region sequences from northern Greece and Greek Cypriots

Irwin,J.; Saunier,J.; Strouss,K.; Paintner,C.; Diegoli,T.; Sturk,K.; Kovatsi,L.; Brandstätter,A.; Cariolou,M.A.; Parson,W.; Parsons,T.J.;

Entire mitochondrial control region data were generated for population samples of 319 unrelated individuals from northern Greece and 91 unrelated individuals from Cyprus. The samples from northern Greece have been previously typed for 15 nuclear short tandem repeat (STR; Kovatsi et al., Forensic Sci. Int. 159:61-63, 2006)

Int J Legal Med 2008 122(1):87-89
PubMed: 17492459

Mitochondrial DNA control region variation in Ashkenazi Jews from Hungary

Brandstätter,A.; Egyed,B.; Zimmermann,B.; Tordai,A.; Padar,Z.; Parson,W.; One hundred and seventy three entire mtDNA control region sequences were generated and analyzed in a population sample from Ashkenazi Jews living in Hungary. The control region was amplified in one piece and sequenced with different sequencing primers. Sequence evaluation was performed twice and validated by a third senior scientist. Phylogenetic analyses were used for quality assurance purposes and for the determination of the haplogroup affiliation of the samples. [Read More]