Characterization and haplotype analysis of 10 novel Y-STR loci in Chinese Han population

In this study, we analyzed allelic sequences of 10 novel Y-specific STR loci, DYS454, DYS510, DYS513, DYS520, DYS542, DYS544, DYS552, DYS561, DYS587 and DYS593, surveyed the distribution of haplotypes in a Chinese Han population. Extracted DNA was amplified with PCR, followed by a horizontal non-denaturing polyacrylamide gel electrophoresis with discontinuous buffer system. Purified alleles were sequenced on DNA sequencer (ABI Model 377) to verify the number of motif repeats. The number of alleles observed at each locus ranged from 3 to 8, yielding 102 haplotypes in 103 unrelated males samples. The allele diversity values for each locus ranged from 0.2099 (DYS544) to 0.7523 (DYS552). The haplotype diversity using all these loci was 0.9998. Our study revealed that they were valuable Y-specific markers for forensic applications.     

Fatal firearm wounds: a clinicopathologic study

Firearm-related injuries are a leading cause of morbidity and mortality in South Africa. This retrospective autopsy study included all firearm-related fatalities seen at a central mortuary in Durban. These cases had initially been assessed by a clinician before death, from July 1998 to June 1999.A total of 322 cases of fatal gunshot wounds were reviewed. Medical records and postmortem findings were compared by data capture onto a spreadsheet. Twenty-eight cases were excluded because of surgical alteration of the wounds, making autopsy evaluation impossible. In 50.7% of cases, the number of wounds was correctly identified and in 55.1% the position was correctly identified. In only 36.1% of cases were the entry and exit wounds correctly identified. The total number of missed wounds was 504 (48.3% of cases). The majority of missed wounds were on the upper limbs (25%), with the anterior trunk (21.8%) and lower limbs (18.5%) making up the remainder. This study demonstrates that physicians in South Africa do not adequately document and interpret gunshot wounds, which may influence the treatment of the patient and have medicolegal consequences. Emphasis should be placed on undergraduate and postgraduate teaching for physicians to correctly identify, interpret, and document firearm wounds.     

Munchausen syndrome by proxy (MSBP): an extreme form of child abuse with a special forensic challenge

Munchausen syndrome by proxy (MSBP) is a special form of child abuse in which an adult repeatedly produces symptoms of illness in a person under his/her care. In most cases the perpetrators are mothers who repeatedly and in different ways produce or feign symptoms of illness in their children in order to obtain medical treatment for them. MSBP is thus a special form of child abuse that is also of importance in the field of forensic medicine and a particular challenge to the medicolegal expert. We report two cases of poisoning with different substances (clozapine and clonidine) detected by toxicological investigations at our Department of Legal Medicine. The relevance of the problem for the medicolegal expert and the importance of an interdisciplinary co-operation are pointed out.     

Y chromosome STRs in Croatians

Eight Y chromosome short tandem repeat (STR) polymorphisms (DYS19, DYS388, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393) were analyzed in the sample of 457 unrelated Croatian men. A general STR allelic frequency pattern in Croatians corresponds to other European populations with the exception of the loci DYS19 and DYS389II. The most frequent DYS19 allele was 16, while at the DYS389II the most frequent were alleles 30 and 31. The most frequent Y chromosome haplotype (16-13-13-31-24-11-11-13) was found in 33 individuals (7.22%). One hundred and seventy-four haplotypes (38.07%) were observed in single copies.     

FINEX: a Probabilistic Expert System for forensic identification

A series of recent papers have shown how to formulate complex problems of forensic DNA identification inference, such as occur in disputed paternity or criminal identification cases, in terms of Probabilistic Expert Systems (PESs). However, at the present time, general purpose PES software is not particularly well suited to the repetitive tasks of: specifying an appropriate set of marker networks for a specific problem; for editing the many local conditional probability tables; and combining evidence from several genetic markers to evaluate likelihoods. Here, I describe a user-friendly prototype software tool called FINEX developed both to automate such tasks and also to evaluate likelihoods of interest. Ease of use is achieved by a graphical specification language that enables a user to quickly specify a range of forensic DNA problems. I describe the algorithms by which FINEX converts the user input in the graphical specification language and data on observed markers to the Bayesian networks used in PES.     

Third molar root development in relation to chronological age: a large sample sized retrospective study

The aim of the present investigation, which is a continuation and extension of a previous published pilot study [Forensic Sci. Int. 129 (2002) 110], was to calculate the chronological age of an individual based on the dental developmental stages of third molars (so-called wisdom teeth). The evaluated material consisted of 2513 orthopantomograms (OPG's) of patients all of Belgian Caucasian origin between 15.7 and 23.3 years. The sample of OPG's was scored by two observers who were calibrated for intra- and interobserver reliability by means of kappa statistics. The kappa statistics revealed a strong agreement between the intra- and interobserver measurements. Further statistical analysis was performed in order to obtain multiple regression formulae for dental age calculation with the chronological age as the independent variable and the third molar developmental stages as dependent variables. Both for males and females a significant Pearson correlation coefficient was noticed for contralateral third molars, a smaller less significant one for the antimeres. For the application of the regression formulae one has to take into consideration the gender, the location and number of wisdom teeth. Probabilities for an individual to be older than 18 years were also calculated in case of fully developed wisdom teeth.     

The identification of a dismembered human body: a multidisciplinary approach

A criminal case was directed to a multidisciplinary forensic team for identification, concerning a victim whose head, having two gunshot wounds, had been separated by a sharp instrument and was recovered 6 months later. The purpose of this research was to determine the sex and age of the victim for human identification. Primarily, macroscopic examination of the skull, tooth, and DNA analysis was conducted for sex determination. A rough assessment of age was made from the skull based on anthropological findings, however a more definitive result of age estimation was determined utilizing dental morphology. The dental data showed an age range of 32-37 from the mineral examination and the formulation of microscopic measurements. The results obtained from the skull and dental analysis matched with the physical characteristics of the victim's body, the known personal data of this person, and with the superposition of the photos gathered by a formal request. Besides, the result of DNA profiling of the victim showed male gender and direct relationship with the victim's presumed wife and daughter. Generally, research on human identification consists of sex and age determination. The sex characteristics can be precisely proved from DNA tests. However, age can be estimated by skeletal, and dental analysis. In this case the performed sex and age analysis lead the research to the selective matching of the missing person's identity.     

The time-dependent expression of fibronectin,MRP8, MRP14 and defensin in surgically treated human skin wounds

Fibronectin, MRP8, MRP14 and defensin were detected immunohistochemically in 46 surgically treated, fresh (hours old) human wounds and in wounds of 13 individuals who died immediately from fatal trauma (airplane crashes or train rollovers). In immediate fatal trauma, it was not possible to detect fibronectin outside of bleeding areas nor could inflammatory cells be visualized in the interstitium using MRP8, MRP14, or defensin antibodies. Fibronectin staining could be regularly demonstrated in wounds at least 20 min-old. Granulocytic infiltrates limited to the perivasal space could be detected 20-30 min after infliction of the wound expressing MRP8, MRP14 and defensin. It was also possible to detect fibronectin networks and MRP8-, MRP14-, and defensin-positive granulocytes and macrophages in particular wounds up to 30 days-old. No differences between the expression of MRP8 and MRP14 could be demonstrated in the wounds, the majority of which were only several hours old. As wound age increased, the number of defensin-positive granulocytes detected decreased. The immunohistochemical detection of fibronectin is a useful way to demonstrate vitality in fresh wounds, beginning about 20-30 min post-trauma. However, detection of MRP8, MRP14 and defensin provides no advantage over the routine histological detection of granulocytes and macrophages in wounds under 1-2 days old.     

Comparison of Turkish Injury Scale (TIS) with the Abbreviated Injury Scale (AIS)

According to the Turkish Penal Code, Section 456, an assailant is punished in a correlation to the severity of the victim's injury. In this study, the injury scale used in Turkey in the basis code 456 is compared with Abbreviated Injury Scale (AIS). For this aim, a total of 984 cases out of the total amount reported at the Traumatology Section of the Turkish Council for Forensic Medicine were randomly selected and evaluated retrospectively. In all, 40.7% of injuries were caused by blunt trauma, whereas 59.3% were caused by a penetrating trauma. According to the Turkish Injury Scale (TIS), 40.3% of the cases were scored to be of a first degree of injury, 15.6% as second degree and 44.1% as third degree. When compared, the score points 3, 4 and 5 in the AIS were seen to be nearly equivalent to the TIS of third degree. From this point of view, in the modified AIS 91.1% of first degree of injury, 51.2% of second degree and 97.2% of third degree of injury are harmonious with TIS. Generally, 83.2% of the cases are harmonious with the AIS system. The purpose of this study is to determine what was the source of differences and to focus on particular traumatic lesions in order to determine a possible rearrangement of the Turkish Injury Scale.