Polymorphism of the central region of D-loop of mitochondrial DNA and personality identification by forensic medicine methods

Polymorphism of mDNA D-loop central region (CR), positions 16366-0072) was studied versus hypervariable sections (HVS1), positions 16024-16365, and HVS2, positions 00073-00340, for a sample of 71 residents of the Russian Federation. Ten polymorphic positions with 56 nucleotide substitutions, 55 of which are transitions, were detect in the CR section; no insertions or deletions were found there. It was proven as possible to use the mDNA CR locus as an additional identification marker in the forensic-expert of the mDNA control region. The probability of random coincidence (RC) of haplotypes in joint typing of HVS1, HVS2 and CR made 0.0208, which is 1.4-fold less versus the same parameter for haplotypes HVS1/HVS2 (RC = 0.0284).     

Allele frequencies data and statistic parameters for 16 STR loci-D19S433, D2S1338, CSF1PO, D16S539, D7S820, D21S11, D18S51, D13S317, D5S818, FGA, Penta E, TH01, vWA, D8S1179, TPOX, D3S1358-in the Rio de Janeiro population, Brazil

Allele frequencies for 16 short tandem repeats (STR) loci were determined with a sample of 230-300 unrelated individuals from the population of Rio de Janeiro, Brazil. The loci are the most commonly used in forensic and paternity testing, being analysed by the Identifiler (Applied Biosystems) and PowerPlex 2.1 (Promega) commercial kits. It was proved that Penta E and D18S51 are the most polymorphic loci.     

The designer drug situation in Ibiza

A total of 137 urine samples and 46 serum samples, corresponding to 154 self-confessed designer drugs consumers in Ibiza island, were analyzed for the presence of designer drugs: amphetamine and amphetamine derivatives (methamphetamine, methylenedioxymethamphetamine (MDMA), methylenedioxyethylamphetamine (MDEA), methylenedioxyamphetamine (MDA), p-methoxymethylamphetamine (PMMA), p-methoxyamphetamine (PMA), etc.), ketamine and gamma-hydroxybutyric acid. Among this population, coming both from the forensic clinic and from the emergency room of a hospital, a total of 99 cases were found positive for some designer drug. This study shows the prevalence of methylenedioxymethamphetamine (MDMA) among designer drug users, sole or in association with other drugs. Also, the mixture of MDMA with other designer drugs, ethanol and/or cocaine is shown to be more likely to produce toxic symptoms requiring clinical attendance in a hospital emergency room. These findings along with the consumption history, the concentrations of drugs and metabolites in urine and serum and the toxicological significance for the interpretation of some MDMA metabolites such as 4-hydroxy-3-methoxymethamphetamine (HMMA) are discussed in this study.     

Y-STR polymorphism in Central Anatolian Region of Turkey

Eight Y-chromosome specific STR (Y-STR) loci including DYS19, DYS388, DYS389I, DYS389II, DYS390, DYS391, DYS392 and DYS393 were investigated in a group of males from Central Anatolian Region of Turkey. Healthy 59 males living in this region for at least three generations were included in the study. PCR analysis was carried out with Y-STR specific primers on genomic DNA obtained from peripheral blood samples and size determination of PCR products was performed by silver staining following 6% polyacrylamide gel electrophoresis (PAGE). DYS388 was found to be the locus with lowest diversity (D) whereas DYS389II was the locus with highest diversity. The current study presented a framework of variation for the eight Y-STR loci in Central Anatolian population.     

Value of fetal autopsy after medical termination of pregnancy

We carried out a retrospective study of 352 medical terminations of pregnancy (MTP) carried out in a large French administrative region over two consecutive years. We analysed the indications for MTP and then compared the prenatal ultrasound diagnosis with fetal autopsy findings in order to demonstrate the value of pathological examination of the fetus in prenatal diagnosis and genetic counselling as well as the need to check by autopsy the quality of ultrasound screening. Preliminary analysis of the indication for these MTP showed that in 69.9% ultrasound screening had been carried out, revealing mainly brain abnormalities (22.2%) and heart defects generally associated with chromosomal abnormalities (32.1%). Prenatal findings were in agreement with autopsy results, showing no false-positive prenatal diagnoses. However, in 7.9% of cases in which brain abnormalities were detected, confirmation was not possible at autopsy because of tissue autolysis, showing the need for optimal conditions of expulsion. In 35.8% of cases, confirmation of the diagnosis by autopsy was not useful for management but still added to medical knowledge and demonstrated to the mother the reality of the defects. In 50.9%, the autopsy findings were decisive for genetic counselling.     

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.     

Analysis of the CODIS autosomal STR loci in four main Colombian regions

Genotype polymorphism studies at the 13 loci STRs included in the combined DNA index system [CODIS and PCR-based short tandem repeat loci, in: Proceedings of the Second European Symposium on Human Identification, Promega Corporation, Madison, WI, 1998, pp. 73-88; J. Forensic Sci. 46 (2001) 453] (CODIS: D3S1358, HUMvWA31, HUMFGA, D8S1179 D21S11, D18S51, D5S818, D13S317, D7S820, HUMTH01, HUMTPOX, HUMCSF1PO and D16S539) were carried out in a sample of 1429 unrelated Colombian individuals belonging to 25 different departments. As many other countries in Latino-America, Colombia shows an important admixture component, basically integrated by Amerindians, European-descendants and African-descendants. Due to the fact that only partial population analyses have been carried out in the country, the main aim of the present analysis is to establish a database of forensic interest based on the widely used CODIS systems covering the main Colombian regions.     

An unusual fatal injury due to tyre burst: a case report

A 20 year-old male driver of a heavy duty crane, employed in an industry located in an industrial area on the outskirts of Delhi was fatally injured while repositioning an ill-fitted locking rim of a crane tyre (Fig. 1). The inner tube of the crane tyre had accidentally burst, dislodging the loose iron-locking rim, which hit the individual with a great force resulting in multiple injuries. He died on his way to the hospital.