Y-chromosomal STR haplotypes in three ethnic groups and one cosmopolitan population from Tunisia

The 11 Y-chromosomal short tandem repeats (STRs) included in the Promega Corporation PowerPlex Y System (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385, DYS437, DYS438 and DYS439) were typed in three ethnic groups ("Andalusians", Berber and Arab) and one cosmopolitan population (Tunis) from Tunisia, summing up 247 individuals, and 139 different haplotypes. Focusing the analysis on the seven Y-STRs of the YHRD Minimal Haplotype Core (DYS385 excepted), "Andalusians" showed no differences from the Cosmopolitan and the Arab samples previously published (our Arab sample presented an extremely low haplotype diversity), but were different from the Berbers. The Berbers from Tunisia were not different from those from Morocco.     

Mitochondrial DNA error prophylaxis: assessing the causes of errors in the GEP'02-03 proficiency testing trial

A qualitative and quantitative analytical method was developed and validated for the determination of 49 licit and illicit drugs in oral fluid. Small oral fluid samples, volume 1mL, were collected from volunteers using a modified Omni-Sal device and the analytes were extracted from an oral fluid/buffer mixture using a single Bond Elut Certify solid phase extraction cartridge. Liquid chromatography-tandem mass spectrometry (LC-MS-MS) and gas chromatography-repetitive full scan mass spectrometry (GC-MS) were used in parallel to analyze the extracts for the targeted drugs. Extracts were analyzed by GC-MS in their underivatized form and as their pentafluoropropionyl derivatives. Deuterated internal standards were used for quantification of drugs of abuse by LC-MS-MS to minimize matrix effects. Methadone-d(9) and tumoxetine were used as the internal standards for quantification of non-derivatized and derivatized analytes respectively by GC-MS. Linearity was demonstrated over the range 5-200 ng/mL and limits of detection were less than 4 ng/mL for each drug analyzed. The method demonstrated acceptable recoveries for most of the analytes and good intra- and inter-day precision. Acquisition of data by repetitive full scan GC-MS allows the addition of further analytes to the target menu.     

Pneumomediastinum and soft tissue emphysema of the neck in postmortem CT and MRI; a new vital sign in hanging?

Spontaneous pneumomediastinum commonly occurs in healthy young men or parturient women in whom an increased intra-alveolar pressure (Valsalva maneuver, asthma, cough, emesis) leads to the rupture of the marginal pulmonary alveoli. The air ascends along the bronchi to the mediastinum and the subcutaneous space of the neck, causing cervico-fascial subcutaneous emphysema in 70-90% of cases. Ninety-five forensic cases, including five cases of hanging, were examined using postmortem multi-slice computed tomography (MSCT) and magnetic resonance imaging (MRI) prior to autopsy until December 2003. This paper describes the findings of pneumomediastinum and cervical emphysema in three of five cases of hanging. The mechanism of its formation is discussed based on these results and a review of the literature. In conclusion, when putrefaction gas can be excluded the findings of pneumomediastinum and cervical soft tissue emphysema serve as evidence of vitality of a hanged person. Postmortem cross-sectional imaging is considered a useful visualization tool for emphysema, with a great potential for examination and documentation.     

Fatal steamer accident; blunt force injuries and drowning in post-mortem MSCT and MRI

Steamer accidents, through contact with the bucket wheel, are very seldom today. No publication of such a kind of fatal accident could be found in literature. We present the case of a fatal steamer accident, in which the findings of a blunt traumatization of a person by the ship was completely documented by post-mortem combined multi-slice computed tomography (MSCT) and magnetic resonance imaging (MRI) examinations. A rupture of the aorta was detected using both radiological methods without use of radiopaque material. Radiological examination revealed a comminuted fracture of the thorax vertebrae at the same level as the aortic rupture. Injuries of the soft tissues of the back, caused by the bucket wheel of the steamer, were also diagnosed. In addition to the signs of blunt force trauma the findings of drowning such as an over inflation of the lungs, fluid in the stomach and duodenum were revealed. Furthermore, algological analysis detected diatoms in the lung tissue and blood from the left heart. Therefore, the cause of death was considered being a combination of fatal hemorrhage, caused by the aortic rupture, and drowning. We conclude that virtual autopsy using combined post-mortem MSCT and MRI is a useful tool for documentation, visualisation and analysis of the findings of blunt force trauma and drowning with a large potential in forensic medicine.     

Estimating the probability of identity in a random dog population using 15 highly polymorphic canine STR markers

Dog DNA-profiling is becoming an important supplementary technology for the investigation of accident and crime, as dogs are intensely integrated in human social life. We investigated 15 highly polymorphic canine STR markers and two sex-related markers of 131 randomly selected dogs from the area around Innsbruck, Tyrol, Austria, which were co-amplified in three PCR multiplex reactions (ZUBECA6, FH2132, FH2087Ua, ZUBECA4, WILMSTF, PEZ15, PEZ6, FH2611, FH2087Ub, FH2054, PEZ12, PEZ2, FH2010, FH2079 and VWF.X). Linkage testing for our set of marker suggested no evidence for linkage between the loci. Heterozygosity (HET), polymorphism information content (PIC) and the probability of identity (P((ID)theoretical), P((ID)unbiased), P((ID)sib)) were calculated for each marker. The HET((exp))-values of the 15 markers lie between 0.6 (VWF.X) and 0.9 (ZUBECA6), P((ID)sib)-values were found to range between 0.49 (VWF.X) and 0.28 (ZUBECA6). Moreover, the P((ID)sib) was computed for sets of loci by sequentially adding single loci to estimate the information content and the usefulness of the selected marker sets for the identification of dogs. The estimated P((ID)sib) value of all 15 markers amounted to 8.5 x 10(-8). The presented estimations turned out to be a helpful approach for a reasonable choice of markers for the individualisation of dogs.     

Study on the application of parent-of-origin specific DNA methylation markers to forensic genetics

In paternity test, especially in motherless cases, the allele inherited from father (obligatory gene, OG) often cannot be determined. The paternity exclusion probability (PE) of a genetic marker is reduced considerably. Therefore, it is necessary to develop a new technique, by which the parental origin of alleles can be determined without genealogical analysis. In this paper, we explored the possibility of using parent-of-origin specific DNA methylation markers to determine the parental origin of alleles, choosing the imprinted single nucleotide polymorphism (SNP) locus rs220028 (A/G) as a model system. We typed the SNP by mutagenically separated PCR (MS-PCR). The frequencies of alleles were A = 0.5085, G = 0.4915; the unbiased heterozygosity was 0.5020. In order to discriminate between the maternal allele and paternal allele, post-digestion MS-PCR, a novel PCR based methylation analysis and SNP typing technique was developed and performed on 18 heterozygous children, and the methylated maternal allele was detected specifically. As a pilot study on the use of epigenetic markers in forensic genetics, our results demonstrated the feasibility of using parent-of-origin specific DNA methylation markers to determine the parental origin of alleles.     

Y-chromosome STR haplotypes in Danes

A total of 185 unrelated Danish males were typed for the Y-chromosome STRs DYS19, DYS385a/b, DYS389-I, DYS389-II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438 and DYS439 using the kits PowerPlex Y (Promega), ReliaGene Y-Plex 6 and ReliaGene Y-Plex 5 (Reliagene Technologies). A total of 163 different haplotypes were observed and among these, 144 haplotypes were unique. The gene diversity was 0.9985. In DYS392, a variant allele migrating as a 10.2 allele was observed. Sequencing of the allele showed a deletion upstream the repeated area.     

The relationship between performance on the standardised field sobriety tests, driving performance and the level of Delta9-tetrahydrocannabinol (THC) in blood

The consumption of Delta9-tetrahydrocannabinol (THC) as cannabis has been shown to result in impaired and culpable driving. Testing drivers for the presence of THC in blood is problematic as THC and its metabolites may remain in the blood for several days following its consumption, even though the drug may no longer have an influence on driving performance. In the present study, the aim was to assess whether performance on the standardised field sobriety tests (SFSTs) provides a sensitive measure of impaired driving behaviour following the consumption of THC. In a repeated measures design, 40 participants consumed cigarettes that contained either 0% THC (placebo), 1.74% THC (low dose) or 2.93% THC (high dose). For each condition, after smoking a cigarette, participants performed the SFSTs on three occasions (5, 55 and 105 min after the smoking procedure had been completed) as well as a simulated driving test on two occasions (30 and 80 min after the smoking procedure had been completed). The results revealed that driving performance was not significantly impaired 30 min after the consumption of THC but was significantly impaired 80 min after the consumption of THC in both the low and high dose conditions. The percentage of participants whose driving performance was correctly classified as either impaired or not impaired based on the SFSTs ranged between 65.8 and 76.3%, across the two THC conditions. The results suggest that performance on the SFSTs provides a moderate predictor of driving impairment following the consumption of THC and as such, the SFSTs may provide an appropriate screening tool for authorities that wish to assess the driving capabilities of individuals suspected of being under the influence of a drug other than alcohol.     

实验性猪水泡病的普通病理学

对24头有极轻微疾病的猪,用猪水泡病病毒一株英国毒株作了脑内、静脉内或皮内接种。在皮肤、鼻、舌和扁桃体上主要的病变是一种复层鳞状上皮的极其致密的凝固性坏死。在肾盂、膀胱、扁桃体和唾液腺及胰腺的导管,发生上皮变性并有过碘酸雪夫反应(PAS)阳性物质的形成均是本病常见的特征。仅用组织病理学检查,不能将猪水泡病和口蹄疫所引起的十分明显的皮肤病变区别开。对水泡病和科赛奇B_5之间的关系作了简短的讨论。     

猪水泡病抗体检查的放射免疫扩散和血清中和技术

曾用(a)放射免疫扩散技术结合放射自显影术和(b)血清中和试验检查了猪血清中猪水泡病病毒的抗体。前者较为灵敏,用于血清的初步筛选,后者用于测定阳性血清的滴度。 有一次从屠宰场采集的1759份血清的调查中,在已知发生过本病的地区内的七个圈舍中,有14份血清具有明显的滴度,结论是这个结果既不表示有广泛散播的未查出的疾病,也不表示在猪群中存在隐性感染。