Detection and quantification of the age-related point mutation A189G in the human mitochondrial DNA

Mutation analysis in the mitochondrial DNA (mtDNA) control region is widely used in population genetic studies as well as in forensic medicine. Among the difficulties linked to the mtDNA analysis, one can find the detection of heteroplasmy, which can be inherited or somatic. Recently, age-related point mutation A189G was described in mtDNA and shown to accumulate with age in muscles. We carried out the detection of this 189 heteroplasmic point mutation using three technologies: automated DNA sequencing, Southern blot hybridization using a digoxigenin-labeled oligonucleotide probe, and peptide nucleic acid (PNA)/real-time PCR combined method on different biological samples. Our results give additional information on the increase in mutation frequency with age in muscle tissue and revealed that the PNA/real-time PCR is a largely more sensitive method than DNA sequencing for heteroplasmy detection. These investigations could be of interest in the detection and interpretation of mtDNA heteroplasmy in anthropological and forensic studies.     

Potential and pitfalls in establishing the provenance of Earth-related samples in forensic investigations

Earth scientists are often asked to establish or constrain the likely provenance of very small quantities of earth-related material as part of a forensic investigation. We tested the independent and collective interpretations of four experts with differing analytical skills in the prediction of sample provenance for three samples from different environmental settings. The methods used were X-ray diffraction, scanning electron microscopy, the assessment of pollen assemblages, and structural characterization of organic matter at the molecular level. Independent interpretations were less accurate than those where multiple techniques were combined. Collective interpretation was very effective in the assessment of provenance for two of the three sites where the mineralogy and plant communities were distinctive. At the other site, although the mineralogical analysis correctly identified the Triassic mudstone soil parent material, Carboniferous spores from domestic coal were initially interpreted as deriving directly from bedrock. Such an interpretation could be a common pitfall owing to anthropogenic redistribution of material such as coal.     

Regional psychiatric boards in Israel: expectations and realities

As laid down by Israeli legislation, the Regional Psychiatric Board constitutes one of the chief instruments in the monitoring of compulsory hospitalization, of compulsory outpatient treatment and of the quality of all inpatient care of the mentally ill. This article presents the findings of a study into the working of these boards. Taking a sample of every second application (N=168) over a 6-month period to one of Israel's six existing Regional Psychiatric Boards, an examination was made of the decisions issued by the board and of other aspects of its functioning. Explanations for the findings of this analysis are suggested, and generalizing from these findings, recommendations are offered for the improvement of the future functioning of all six Boards.     

Analysis of Delta9-tetrahydrocannabinol in oral fluid samples using solid-phase extraction and high-performance liquid chromatography-electrospray ionization mass spectrometry

An analytical method using solid-phase extraction (SPE) and high-performance liquid chromatography-mass spectrometry (LC-MS) has been developed and validated for the confirmation of Delta(9)-tetrahydrocannabinol (THC) in oral fluid samples. Oral fluid was extracted using Bond Elut LRC-Certify solid-phase extraction columns (10 cm(3), 300 mg) and elution performed with n-hexane/ethyl acetate. Quantitation made use of the selected ion-recording mode (SIR) using the most abundant characteristic ion [THC+H(+)], m/z 315.31 and the fragment ion, m/z 193.13 for confirmation, and m/z 318.00 for the protonated internal standard, [d(3)-THC+H(+)]. The method proved to be precise for THC, in terms of both intra-day and inter-day analyses, with coefficients of variation less than 10%, and the calculated extraction efficiencies for THC ranged from 76 to 83%. Calibration standards spiked with THC between 2 and 100 ng/mL showed a linear relationship (r(2)=0.999). The method presented was applied to the oral fluid samples taken from the volunteers during the largest music event in Portugal, named Rock in Rio-Lisboa. Oral fluid was collected from 40 persons by expectoration and with Salivette. In 55% of the samples obtained by expectorating, THC was detected with concentration ranges from 1033 to 6552 ng/mL and in 45% of cases THC was detected at concentrations between 51 and 937 ng/mL. However, using Salivette collection, 26 of the 40 cases had an undetectable THC.     

A prospective analysis of sexual assault perpetration: risk factors related to perpetrator characteristics

This study prospectively evaluated perpetrator risk factors for sexual assault perpetration, including peer influences, beliefs and attitudes about sexuality, alcohol use, and token resistance. Perpetration of sexual assault was evaluated at three time periods: pretest, 3-month follow-up, and 7-month follow-up. Retrospective and prospective analyses yielded differential predictors of sexually aggressive behavior. However, perpetration of sexual assault at any particular assessment period was a predictor of perpetration during the subsequent follow-up period. Furthermore, several variables that have previously been demonstrated in the literature to be related to the perpetration of sexual assault were not significant in regression analyses, indicating that these variables may be rendered insignificant when accounting for past perpetration in prospective analyses. These findings may have significant potential impact on development of sexual assault prevention programming with men.     

Age at first sexual assault and current substance use and depression

This article explores how the association between sexual violence and substance use and mental health differs by race and life course stage. Analyses are based on data (n = 8,000) from the Violence and Threats of Violence against Women and Men in the United States Survey, 1994-1996 (NVAWS). Although sexual violence does not heighten the risk of problem drinking for White women, minority women victimized in adulthood are significantly more likely to engage in problem drinking and use illicit drugs. This suggests that for minority women the effects of recent victimization experiences result in immediate and potentially long-lasting consequences. The findings with respect to the association between sexual violence and depression are consistent with the child and adolescent development literature. It is Hispanic women who are more likely to suffer depression as a consequence of child sexual assault.     

Significance of Family Risk Factors in Development of Childhood Animal Cruelty in Adolescent Boys with Conduct Problems

The literature suggests that physical child abuse, sexual child abuse, paternal alcoholism, paternal unavailability, and domestic violence may be significant in development of childhood animal cruelty. Two groups of early- to late adolescent boys (CTA and N-CTA) in residential treatment for conduct disorder were compared in the current study on histories of these family risk factors. The adolescents in Group 1 were comprised of boys who had conduct problems with documented histories of animal cruelty (n = 50; CTA). Group 2 consisted of adolescent boys (n = 50; N-CTA) with conduct problems, but without documented histories of animal cruelty. Results showed that children in the CTA group had significantly greater histories of physical and/or sexual child abuse and domestic violence in comparison to children in the N-CTA group. These results suggest that physical and/or sexual abuse to a child, and exposure to domestic violence, may be significant in the development of childhood animal cruelty.     

Selection of twenty-four highly informative SNP markers for human identification and paternity analysis in Koreans

A number of DNA marker types suitable for human identification and parentage testing have been developed, of which single nucleotide polymorphisms (SNPs) merit attention as they are abundant, genetically stable, and amenable to high-throughput automated analysis. In this regard, 24 highly informative SNP markers representing each 22 autosome and both sex chromosomes were selected, and the allele and genotype frequencies of these SNPs were determined in a group composed of 30 unrelated Koreans. Based on frequency data from this group, the estimated probability of identity (P(I)) and probability of paternity exclusion (P(E)) with 22 autosomal SNP loci were 1.905x10(-10) and 98.9%, respectively. The SNPs in this study offer a small but highly accurate database that will be an essential reference for SNP-based forensic application in the future.