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Background: Dystrophic Epidermolysis bullosa (DEB) is a rare inherited mechanobullous disease characterised by the hyperfragility of the skin and mucous membranes. It is (typically) caused by (loss-of-function) mutations in the COL7A1 gene that impair the formation of collagen type VII, which represents the major constituent of anchoring fibrils within the basement membrane zone of epithelialised tissues. In a 4-year-old patient diagnosed with the clinical features of recessive DEB, genotyping via Next-Generation EB Panel Sequencing initially revealed the homozygosity of the maternal c.425A>G mutation, while the paternal heterozygosity in exon 3 was lacking. This genetic profile suggested incongruent gene transmission due to uniparental isodisomy (UPD) or the occurrence of a hemizygous deletion of unknown size. Methods: Thus, the EB panel sequencing of genomic DNA, followed by a paternity test and analysis of microsatellite markers, as well as multiplex ligation-dependent probe amplification (MLPA) copy number analysis using patient and parental DNA, were performed. Results: This approach revealed a paternally derived hemizygous deletion spanning from exon 3 to exon 118. Linear amplification-mediated PCR (LAM-PCR) determined the breaking points within intron 2 of the COL7A1 gene, comprising a 40kb segment within intron 1 of the adjacent PFKFB4 gene. Conclusion: This report highlights the relevance of advanced molecular profiling to determine new/exceptional/unusual genotypes and the accurate mode of genetic transmission in DEB. [ABSTRACT FROM AUTHOR]

With the new 6-dye AmpFISTR ® Yfiler ® Plus amplification kit (Thermo Fisher Scientific, Waltham, MA, USA) a set of 25 Y-chromosomal short tandem repeat loci (Y-STRs), including seven rapidly mutating Y-STRs (RM Y-STRs), is now available for forensic DNA typing. In this study we present our validation data for the AmpFISTR ® Yfiler ® Plus amplification kit and show the results of Y-chromosomal typing of 425 unrelated male individuals from two Austrian populations (Salzburg and Upper Austria) with the AmpFISTR ® Yfiler ® Plus amplification kit. Forensic parameters were calculated and compared for four Y-STR marker sets. We also typed five brother pairs to evaluate the power of discrimination for related individuals. The AmpFISTR ® Yfiler ® Plus (Yfiler Plus) kit appeared to be unimpaired by typical inhibitors such as hematin and humic acid or by large amounts of female components. An upgrade of analyzed markers resulted in increased discrimination capacity that is crucial for forensic trace analysis. [ABSTRACT FROM AUTHOR]

We report a rare case of homicide by hanging. The postmortem examination resulted in a verdict of death by suicidal hanging and the Public Prosecutor's Office released the body for burial. After intervention by the relatives police investigations were resumed. Based on evidence impossible to reconcile with the results of the postmortem examination and requiring further clarification, an autopsy was ordered. The results of the postmortem could not be brought in line with a suicidal hanging and were further substantiated by DNA analysis. The scenario put forward by the defense claiming a secondary transfer of trace evidence onto the ligature and the victim's clothes was excluded because of the distribution pattern and the trace evidence ratio. The defendant was sentenced to 20 years of prison for homicide. The verdict was confirmed by the Supreme Court and commuted to 18 years. [ABSTRACT FROM AUTHOR]

The small alpine district of East Tyrol (Austria) has an exceptional demographic history. It was contemporaneously inhabited by members of the Romance, the Slavic and the Germanic language groups for centuries. Since the Late Middle Ages, however, the population of the principally agrarian-oriented area is solely Germanic speaking. Historic facts about East Tyrol's colonization are rare, but spatial density-distribution analysis based on the etymology of place-names has facilitated accurate spatial mapping of the various language groups' former settlement regions. To test for present-day Y chromosome population substructure, molecular genetic data were compared to the information attained by the linguistic analysis of pasture names. The linguistic data were used for subdividing East Tyrol into two regions of former Romance (A) and Slavic (B) settlement. Samples from 270 East Tyrolean men were genotyped for 17 Y-chromosomal microsatellites (Y-STRs) and 27 single nucleotide polymorphisms (Y-SNPs). Analysis of the probands' surnames revealed no evidence for spatial genetic structuring. Also, spatial autocorrelation analysis did not indicate significant correlation between genetic (Y-STR haplotypes) and geographic distance. Haplogroup R-M17 chromosomes, however, were absent in region A, but constituted one of the most frequent haplogroups in region B. The R-M343 (R1b) clade showed a marked and complementary frequency distribution pattern in these two regions. To further test East Tyrol's modern Y-chromosomal landscape for geographic patterning attributable to the early history of settlement in this alpine area, principal coordinates analysis was performed. The Y-STR haplotypes from region A clearly clustered with those of Romance reference populations and the samples from region B matched best with Germanic speaking reference populations. The combined use of onomastic and molecular genetic data revealed and mapped the marked structuring of the distribution of Y chromosomes in an alpine region that has been culturally homogeneous for centuries. [ABSTRACT FROM AUTHOR]

Presents a study that used nitrocellulose membranes for the purification of ancient DNA from human bone and teeth extracts. Background on difficulties in removing inhibitory substances from hard tissue extracts; Details on the human bone and teeth material used in the study; Analysis of the effectiveness of the method.

Abstract: Due to its high reliability, DNA-typing is the method of preference in the field of osseous human remains identification. Nevertheless, contaminations from various sources have been shown to be inherent to the system, especially if the DNA-yield of samples under investigation is expected to be at a low level. For this reason a special focus has to be put on sampling procedures and contamination control in order to prevent from false results. In this study we present an illustrative case report followed by particular recommendations for taking samples from osseous human remains. [Copyright &y& Elsevier]

Abstract: A badly decomposed body required identification by means of DNA analysis. A brother and sister of the deceased were available as reference subjects. Although investigation of Y-chromosomal markers established an exclusion condition, autosomal markers suggested a positive identification. In order to increase the reliability of the tests, X-chromosomal markers were also investigated. This analysis showed the body to have an XXY genotype (Klinefelter''s syndrome). A number of hypotheses were assessed using biostatistical methods, ultimately resulting in a definite identification. The special aspect of Klinefelter''s syndrome proved highly useful for biostatistical analysis. [Copyright &y& Elsevier]