Identifying sex chromosome abnormalities in forensic DNA testing using amelogenin and sex chromosome short tandem repeats

Forensic DNA laboratories worldwide have begun using multiplexed STR systems to decrease analysis time and increase sample throughput. The loci used in these systems are basically "nonsense" regions of human DNA. However, due to the chromosome on which some of these loci are located, various genetic abnormalities can sometimes be detected. This paper will show one such abnormality--Klinefelter's Syndrome--and the process used to show the possibility of this defect in two undiagnosed males using peak height ratios at the Amelogenin locus, and X-Y STRs.     

Fatal cranial injuries caused by an electric angle grinder

A case of fatal cranial injuries caused by an angle grinder is reported. The scalp lesions were typical of those produced by a cutting disk in a side-slipping movement. On the cranial vault were two bony losses of substance, one of which was deep enough for intracranial penetration of the disk. Signs of deflection of the disk, identical to those found on the scalp, were observed on the external bony table. Because of the circumstances in which the victim was discovered, in particular the damage to the machine which had a broken handle, and the lack of any indication of homicide or suicide, an accident is the most likely hypothesis.     

Death due to microvascular occlusion in sickle-cell trait following physical exertion

The heterozygous condition characterized by the presence of hemoglobin AS (sickle-cell trait) occurs in approximately 8% of the American black population. Unlike the homozygous state (sickle-cell disease), sickle-cell trait is not widely recognized as a cause of life-threatening illness or death despite over 30 case reports describing fatal or serious complications of exercise in young black males with this condition. These reports identify heat stress, dehydration, viral illness, and poor physical conditioning as factors which may contribute to exertional rhabdomyolysis and sudden death, suggesting multifactorial etiology. However, since sickling is known to occur postmortem, it remains controversial as to whether the pathogenesis of these exercise related deaths involves microvascular obstruction by sickled erythrocytes. We describe three young black individuals with no significant past medical history who died following physical exertion. In all three cases, postmortem hemoglobin electrophoresis demonstrated hemoglobin AS. In none of the cases was the body temperature found to be elevated. These cases serve to remind the forensic community that, in the proper setting, sickle-cell trait must be viewed as a potentially fatal disorder.     

Combined homicide-suicide in Galveston County

Combined homicide-suicides have been classified based on the psychopathology of the perpetrator and the nature of the relationship between perpetrator and victim(s). To further understand the nature of this tragic phenomenon and to test the validity and practicality of a previously suggested classification system, investigators systematically collected data on all combined homicide-suicide events that occurred in Galveston County, Texas over a continuous 18-year period (n = 20). The most common psychopathological finding for perpetrators was high serum alcohol levels that suggested intoxication. Most combined homicide-suicides fell into one of the relational categories and most of these, as predicted, were of the consortial type, possessive subtype. As expected, due to the small sample size, the less common types of combined homicide-suicide were not represented in this sample.     

Deposition of 7-aminoflunitrazepam and flunitrazepam in hair after a single dose of Rohypnol

In recent years, there has been a notable increase in the number of reports on drug-facilitated sexual assault. Benzodiazepines are the most common so-called "date-rape" drugs, with flunitrazepam (Rohypnol) being one of the most frequently mentioned. The aim of this study was to determine whether flunitrazepam and its major metabolite 7-aminoflunitrazepam could be detected in hair collected from ten healthy volunteers after receiving a single 2 mg dose of Rohypnol using solid phase extraction and NCI-GC-MS. Such data would be of great importance to law enforcement agencies trying to determine the best time interval for hair collection from a victim of drug-facilitated sexual assault in order to reveal drug use. Ten healthy volunteers (eight women and two men, 21 to 49 years old) participated in the study. The following hair samples were collected from each volunteer: one before flunitrazepam administration, and 1, 3, 5, 14, 21, and 28 days after. In five volunteers, 7-aminoflunitrazepam was detected 24 h after flunitrazepam administration and remained in hair throughout the entire 28-day study period (0.6-8.0 pg/mg). In two cases, 7-aminoflunitrazepam appeared in hair 21 days after drug intake (0.5-2.7 pg/mg), and in two subjects 14 days later (0.5-5.4 pg/mg). In one volunteer, 7-aminoflunitrazepam was detected on day 14 and 21 but concentrations were below the quantitation limit. Flunitrazepam was detected in some samples but all concentrations were below the quantitation limit (0.5-2.3 pg/mg).     

Validation of short tandem repeats (STRs) for forensic usage: performance testing of fluorescent multiplex STR systems and analysis of authentic and simulated forensic samples

The amplification and typing conditions for the 13 core CODIS loci and their forensic applicability were evaluated. These loci are CSF1PO, FGA, TH01, TPOX, vWA, D3S1358, D5S818, D7S820, D8S1179, D13S317, D16S539, D18S51, and D21S11. Results were obtained using the multiplex STR systems AmpFlSTR Profiler Plus and AmpFlSTR COfiler (Applied Biosystems, Foster City, CA), GenePrint PowerPlex (Promega Corporation, Madison, WI), and subsets of these kits. For detection of fluorescently labeled amplified products, the ABI Prism 310 Genetic Analyzer, the ABI Prism 377 DNA Sequencer, the FMBIO II Fluorescent Imaging Device, and the Fluorlmager were utilized. The following studies were conducted: (a) evaluation of PCR parameter ranges required for adequate performance in multiplex amplification of STR loci, (b) determination of the sensitivity of detection of the systems, (c) characterization of non-allelic PCR products, (d) evaluation of heterozygous peak intensities, (e) determination of the relative level of stutter per locus, (f) determination of stochastic PCR thresholds, (g) analysis of previously typed case samples, environmentally insulted samples, and body fluid samples deposited on various substrates, and (h) detection of components of mixed DNA samples. The data demonstrate that the commercially available multiplex kits can be used to amplify and type STR loci successfully from DNA derived from human biological specimens. There was no evidence of false positive or false negative results and no substantial evidence of preferential amplification within a locus. Although at times general balance among loci labeled with the same fluorophore was not observed, the results obtained were still valid and robust. Suggested criteria are provided for determining whether a sample is derived from a single source or from more than one contributor. These criteria entail the following: (a) the number of peaks at a locus, (b) the relative height of stutter products, and (c) peak height ratios. Stochastic threshold levels and the efficiency of non-templated nucleotide addition should be considered when evaluating the presence of mixtures or low quantity DNA samples. Guidelines, not standards, for interpretation should be developed to interpret STR profiles in cases, because there will be instances in which the standards may not apply. These instances include (a) a primer binding site variant for one allele at a given locus, (b) unusually high stutter product, (c) gene duplication, and (d) translocation.     

Seat belt induced transection of the trachea in a child on the lap of an adult

As a victim of his parents' suicide, a three-year-old boy was found dead on the lap of the passenger in the left front seat of a car that dove from the wharf and crashed into the sea. He died from the transection of trachea due to shoulder belt in the absence of the signs of drowning. The seat belt paradoxically injured the child on the passenger's lap in the traffic accident. The popular custom of Japanese parents of holding their children on their laps in cars is dangerous, while another custom of killing their children upon suicide of parents or couples should be socially and legally controlled.     

An investigation of the psychological characteristics of stalkers: empathy, problem-solving, attachment and borderline personality features

This study examined the psychological characteristics of a sample of self-reported stalkers in comparison with a control group, on measures of empathy, problem-solving skills, attachment, and borderline personality features. Stalkers were identified by their endorsement of specific behavioral items, consistent with a widely adopted definition of stalking, denoting behaviors that: (a) are repeatedly directed toward an identified target; (b) are intrusive and unwanted; and (c) evoke fear in the victim. Stalkers scored significantly higher than controls on measures of insecure attachment and borderline personality features, suggesting that the stalking group demonstrates a general pattern of inadequate interpersonal attachment, has limited abilities to form and maintain appropriate relationships, is emotionally labile and unstable, and experiences ambivalence regarding their interpersonal relationships. Treatment implications are discussed herein.     

Microscopic characteristics of hacking trauma

The purpose of this study was to determine if it is possible to associate machetes, axes, and cleavers with the microscopic parallel striations they leave on the cut surfaces of the bone. Hacking trauma was experimentally inflicted on pig bones using machetes, axes, and cleavers. Negative impressions of both the cut surfaces of the bone and the weapon blades were analyzed using scanning electron microscopy. The results of this investigation indicate that it is possible to correlate a class of hacking weapons to trauma inflicted on bone by these weapons.