Haplotype frequencies of 16 Y-chromosome STR loci in the Barcelona metropolitan area population using Y-Filer kit

Haplotype frequencies for 16 Y-chromosomal short tandem repeat (STR) loci, included in the Y-Filer kit, were determined in 247 unrelated healthy individuals from the Barcelona metropolitan area (Catalonia, NE Spain). After PCR amplification and denaturing PAGE electrophoresis, DYS456, DYS389I, DYS390, DYS389II, DYS458, DYS19, DYS385a/b, DYS393, DYS391, DYS439, DYS635, DYS392, Y GATA H4.1, DYS437, DYS438 and DYS448 loci were typed. The aim of this study is to evaluate the performance in our population of the 16 loci of the Y-chromosome present in the new Y-Filer commercial identification kit, and acquire haplotype frequencies for mathematic processing of the forensic diagnosis in our geographical working area. In this sample, all haplotypes were unique. From the forensic point of view, the combined polymorphisms of the Y-Filer kit provide a high diagnostic efficiency.     

Genetic data of 10 X-STRs in a Spanish population sample

In this work, we present population genetic data of 10 X-chromosome STRs (DXS8378, DXS9898, DXS8377, HPRTB, GATA172D05, DXS7423, DXS6809, DXS7132, DXS101 and DXS6789) obtained from sample of 145 unrelated female individuals belonging to Valencia (Spain), a region located in the east of the Iberian Peninsula. All the markers studied present high genetic diversities, similar to those previously reported in other European population samples. No deviations from Hardy-Weinberg equilibrium were observed, with the exception of DXS101 locus. Allele frequencies and parameters of forensic interest for each X-STR were calculated. High mean exclusion chance and power of discrimination values were obtained by combining these 10 X-linked markers. Population comparisons (exact test of population differentiation; pairwise genetic distances) were carried out and low genetic distances were found between our sample and those from other Spanish or European regions.     

Heteroplasmy in hair: differences among hair and blood from the same individuals are still a matter of debate

The analysis of mitochondrial DNA (mtDNA) is a useful tool in forensic cases when sample contents too little or degraded nuclear DNA to genotype by autosomal short tandem repeat (STR) loci, but it is especially useful when the only forensic evidence is a hair shaft. Several authors have related differences in mtDNA from different tissues within the same individual, with high frequency of heteroplasmic variants in hair, as also in some other tissues. Is still a matter of debate how the differences influence the interpretation forensic protocols. One difference between two samples supposed to be originated from the same individual are related to an inconclusive result, but depending on the tissue and the position of the difference it should have a different interpretation, based on mutation-rate heterogeneity of mtDNA. In order to investigate it differences in the mtDNA control region from hair shafts and blood in our population, sequences from the hypervariable regions 1 and 2 (HV1 and HV2) from 100 Brazilian unrelated individuals were compared. The frequency of point heteroplasmy observed in hair was 10.5% by sequencing. Our study confirms the results related by other authors that concluded that small differences within tissues should be interpreted with caution especially when analyzing hair samples.     

Eugenics: progress or backward movement?]

Throughout this article there is a critical analysis of how genetics presents a dilemma for "human progress". So much so, that the legal world aims to create unequivocal norms and guarantees in relation with eugenics in order to avoid attempting against human dignity. The document makes the reader reflect on the ethical problems that eugenics can entail.     

Sudden Death Due to Infiltration of Left Bundle Branches by Interventricular Septal Cardiac Fibroma

Cardiac fibromas are benign conditions; however, their location and size may cause ventricular arrhythmias and sudden cardiac death. We report a case of a 68‐year‐old female who died suddenly. Postmortem investigation detected a huge cardiac fibroma in the pars muscularis of the interventricular septum, occupying almost the entire muscular septum, and restricting the volume of left ventricular chamber. Histological examination revealed numerous foci of calcification in the alternating complex interlacing or strictly parallel collagenous fiber mass. Tumor mass was mainly demarcated, but in some places, fibrous infiltration of surrounding working cardiac muscle was found. We present a case when direct tumor involvement in the descending left bundle branches was evidenced. Mainly, the branches of septal fascicle were disrupted, entrapped, and degenerated by the tumor mass. This case report emphasizes that postmortem histological examination of conduction system in all sudden cardiac death cases may substantially improve the accuracy of postmortem diagnosis.     

Significance of hemorrhages at the origin of the sternocleidomastoid muscles in hanging

Hemorrhages at the periostal-clavicular origin of the sternocleidomastoid muscles are part of the indirectly induced autopsy findings in death by hanging. In a prospective study of 178 cases of hanging, clavicular hemorrhages were found in 110 cases (a relative frequency of 62%). A statistically significant association between occurrence of hemorrhages and completeness of the victim's body suspension was discovered (P = 0.046) as well as a significant association between the occurrence of hemorrhages and the location of the ligature knot on the neck (P = 0.008). The occurrence of hemorrhages at the clavicular origin of the sternocleidomastoid muscles was independent of age, sex, and weight. This article renews the knowledge of this important vital sign described mainly in the German medicolegal literature.     

Adult Fanniidae associated to pig carcasses during the winter season in a semiarid environment: initial examination of their potential as complementary PMI indicators

Besides the dominant necrophagous dipteran of the families Sarcophagidae and Calliphoridae usually used for post mortem interval (PMI) estimations, species of other families such as Fanniidae have frequently been reported in forensic studies. Though less abundant, these species are prevalent in decomposing carcasses with most reports being anecdotal. In this study we identified adults of the fly family Fanniidae associated to pig carcasses located under different local environmental conditions (sun and shade) in a semiarid area at Mendoza, Argentina during the winter season. We examined the potential of species of this family as indicators of PMI by measuring abundance, time of occurrence and residency time at the carcasses. We identified six species of Fanniidae: Euryomma peregrinum Meigen, Fannia albitarsis Stein, Fannia femoralis Stein, Fannia fusconotata Rondani, Fannia heydenii Wiedemann and Fannia sanihue Domínguez and Aballay. Overall, fly abundance was higher at the sunlit than at the shaded carcass. The most abundant species at the sun was F. fusconotata while at the shaded carcass F. femoralis was the most abundant species. Based on their residency time, however, species with higher potential as PMI indicators seem to be F. heydenii and F. sanihue as their residency time at the carcass was restricted to a short period of the decomposition process. Other species were present throughout most of the decomposition process or in such a low abundance (E. peregrinum) that they were not useful as indicators. These preliminary results indicate that adults of some species of Fanniidae could act as a good complementary indicator species during the winter season. In particular, F. heydenii and F. sanihue should be the focus of further studies which should also expand to other seasons.     

Measuring human remains in the field: Grid technique, total station, or MicroScribe?

Although three-dimensional (3D) coordinates for human intra-skeletal landmarks are among the most important data that anthropologists have to record in the field, little is known about the reliability of various measuring techniques. We compared the reliability of three techniques used for 3D measurement of human remain in the field: grid technique (GT), total station (TS), and MicroScribe (MS). We measured 365 field osteometric points on 12 skeletal sequences excavated at the Late Medieval/Early Modern churchyard in V?eruby, Czech Republic. We compared intra-observer, inter-observer, and inter-technique variation using mean difference (MD), mean absolute difference (MAD), standard deviation of difference (SDD), and limits of agreement (LA). All three measuring techniques can be used when accepted error ranges can be measured in centimeters. When a range of accepted error measurable in millimeters is needed, MS offers the best solution. TS can achieve the same reliability as does MS, but only when the laser beam is accurately pointed into the center of the prism. When the prism is not accurately oriented, TS produces unreliable data. TS is more sensitive to initialization than is MS. GT measures human skeleton with acceptable reliability for general purposes but insufficiently when highly accurate skeletal data are needed. We observed high inter-technique variation, indicating that just one technique should be used when spatial data from one individual are recorded. Subadults are measured with slightly lower error than are adults. The effect of maximum excavated skeletal length has little practical significance in field recording. When MS is not available, we offer practical suggestions that can help to increase reliability when measuring human skeleton in the field.