Esteve,Codina A.; Niederstätter,H.; Parson,W.; The amelogenin test integrated in most commercial polymerase chain reaction (PCR) multiplex kits is routinely used in the forensic field for gender determination of DNA samples. It has been demonstrated that this test is not entirely reliable. Males with deletions in the homologous amelogenin part on the Y chromosome (AMELY) were erroneously typed as females due to lack of Y-specific amelogenin amplification. Also, primer binding site mutations that result in a failure to amplify the AMELY or the X-chromosomal part (AMELX) have been observed. [Read More]

Irwin,J.; Saunier,J.; Niederstätter,H.; Strouss,K.; Sturk,K.; Diegoli,T.; Brandstätter,A.; Parson,W.; Parsons,T.; Instances of point and length heteroplasmy in the mitochondrial DNA control region were compiled and analyzed from over 5,000 global human population samples. These data represent observations from a large and broad population sample, representing nearly 20 global populations. As expected, length heteroplasmy was frequently observed in the HVI, HVII and HVIII C-stretches. Length heteroplasmy was also observed in the AC dinucleotide repeat region, as well as other locations. [Read More]

Baumann,A.; Lohmann,W.; Schubert,B.; Oberacher,H.; Karst,U.; During the last 2 years, the knowledge on the metabolic pathway of tetrazepam, a muscle relaxant drug, was expanded by the fact that diazepam was identified as a degradation product of tetrazepam. The present study demonstrates that this metabolic conversion, recently discovered by in vivo studies, can also be predicted on the basis of a purely instrumental method, consisting of an electrochemical cell (EC) coupled to online liquid chromatography (LC) and mass spectrometry (MS). [Read More]

Berger,C.; Parson,W.; The degradation state of some biological traces recovered from the crime scene requires the amplification of very short fragments to attain a useful mitochondrial (mt)DNA sequence. We have previously introduced two mini-multiplex assays that amplify 10 overlapping control region (CR) fragments in two separate multiplex PCRs, which brought successful CR consensus sequences from even highly degraded DNA extracts. This procedure requires a total of 20 sequencing reactions per sample, which is laborious and cost intensive. [Read More]

Pala,M.; Achilli,A.; Olivieri,A.; Kashani,B.H.; Perego,U.A.; Sanna,D.; Metspalu,E.; Tambets,K.; Tamm,E.; Accetturo,M.; Carossa,V.; Lancioni,H.; Panara,F.; Zimmermann,B.; Huber,G.; Al-Zahery,N.; Brisighelli,F.; Woodward,S.R.; Francalacci,P.; Parson,W.; Salas,A.; Behar,D.M.; Villems,R.; Semino,O.; Bandelt,H.J.; Torroni,A.; There are extensive data indicating that some glacial refuge zones of southern Europe (Franco-Cantabria, Balkans, and Ukraine) were major genetic sources for the human recolonization of the continent at the beginning of the Holocene. Intriguingly, there is no genetic evidence that the refuge area located in the Italian Peninsula contributed to this process. [Read More]