Y-STR typing of an Austrian population sample using a 17-loci multiplex PCR assay

Berger,B.; Lindinger,A.; Niederstätter,H.; Grubwieser,P.; Parson,W.; Y-chromosomal STR haplotypes were determined from a sample of 135 unrelated men and 70 sons from Tirol (Austria) using the AmpFISTR Yfiler PCP, amplification kit (Applied Biosystems) that coamplifies 17 Y-STRs. The panel of markers includes the 9-loci European minimal haplotype (minHt) and, in addition, the markers DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635 (Y GATA C4) and Y GATA H4. A total of 130 different haplotypes (125 were unique) were identified by the 17 Y-STR markers, an increase of 19 compared with the minHt. [Read More]

A common nonsense mutation in the repetitive Kringle IV-2 domain of human apolipoprotein(a) results in a truncated protein and low plasma Lp(a)

Parson,W.; Kraft,H.G.; Niederstätter,H.; Lingenhel,A.W.; Köchl,S.; Fresser,F.; Utermann,G.; LPA, the gene coding for apolipoprotein(a) [apo(a)], is the major determinant of lipoprotein(a) [Lp(a)] plasma levels, which are associated with risk for coronary heart disease (CHD) and stroke. It is not completely understood how variation in LPA relates to Lp(a) concentrations. One type of variation related to Lp(a) levels is the number of Kringle (K) IV-2 (g.61C>T; GenBank L14005.1) repeats in LPA, but sequence variation may also contribute. [Read More]

A proposed nomenclature for 15 canine-specific polymorphic STR loci for forensic purposes

Eichmann,C.; Berger,B.; Parson,W.; We performed a population study on 15 polymorphic STR loci (FH2010, FH2079, PEZ2, VWF.X, FH2054, FH2087Ub, FH2611, WILMS-TF, PEZ12, PEZ15, PEZ6, FH2087Ua, ZUBECA4, ZUBECA6, FH2132) on 131 randomly selected dogs. Alleles were identified and grouped according to their estimated fragment length using fixed allelic bins encompassing one base-pair. The allele assignment was confirmed by sequence analysis of homozygote and cloned heterozygote alleles. In order to develop a uniform repeat-based nomenclature, extensive sequence analysis was performed on a selection of alleles from each STR locus. [Read More]

Airbag contact in traffic accidents: DNA detection to determine the driver identity

Grubwieser,P.; Pavlic,M.; Gunther,M.; Rabl,W.; A total of 34 deployed driver and passenger airbags from altogether 20 vehicles after frontal collisions were investigated. In 80% of the airbags possible biological traces could be located with an alternative light source (ALS, Polilight) at a wavelength of 450-470 nm. These traces were swabbed, a part of them additionally cut and subjected to DNA analysis, which led to comparable SGMplus profiles in about 60%. In the 20% of the airbags on which no possible biological traces could be located, the whole surfaces were swabbed. [Read More]

Applicability of tandem mass spectrometry to the automated comparative sequencing of long-chain oligonucleotides

Oberacher,H.; Parson,W.; Oefner,P.J.; Mayr,B.M.; Huber,C.G.; An algorithm for the comparative sequencing (COMPAS) of oligonucleotides is shown to be suitable for the sequence verification of nucleic acids ranging in length from a few to 80 nucleotides. The algorithm is based on the matching of a fragment ion spectrum generated by collision-induced dissociation to m/z values predicted from a known reference sequence employing established fragmentation pathways. Prior to mass spectrometric investigation, the oligonucleotides were on-line purified by ion-pair reversed-phase high-performance liquid chromatography using monolithic separation columns. [Read More]