Forensic and phylogeographic characterisation of mtDNA lineages from Somalia

The African mitochondrial (mt) phylogeny is coarsely resolved but the majority of population data generated so far is limited to the analysis of the first hypervariable segment (HVS-1) of the control region (CR). Therefore, this study aimed on the investigation of the entire CR of 190 unrelated Somali individuals to enrich the severely underrepresented African mtDNA pool. The majority (60.5?%) of the haplotypes were of sub-Saharan origin with L0a1d, L2a1h and L3f being the most frequently observed haplogroups. This is in sharp contrast to previous data reported from the Y-chromosome, where only about 5?% of the observed haplogroups were of sub-Saharan provenance. We compared the genetic distances based on population pairwise F (st) values between 11 published East, Central and North African as well as western Asian populations and the Somali sequences and displayed them in a multi-dimensional scaling plot. Genetic proximity evidenced by clustering roughly reflected the relative geographic location of the populations. The sequences will be included in the EMPOP database ( www.empop.org ) under accession number EMP00397 upon publication (Parson and Dür Forensic Sci Int Genet 1:88-92, 2007).     

Forensic and genetic characterization of mtDNA from Pathans of Pakistan

Complete mitochondrial control region data were generated for 230 unrelated Pathans from North West Frontier Province and Federally Administered Tribal Areas of Pakistan. To confirm data quality and to explore the genetic structure of Pathans, mitochondrial DNA haplogroup affiliation was determined by shared haplogroup-specific polymorphisms in the control region and by the analysis of diagnostic coding region single-nucleotide polymorphisms using a multiplex system for the assignment of eight haplogroups: M, N1′5, W, R, R0, T, J, and U. Sequence comparison revealed that 193 haplotypes were defined by 215 variable sites when major insertions were ignored at nucleotide positions 16193, 309, and 573. From a phylogenetic perspective, Pathans have a heterogeneous origin, displaying a high percentage of West Eurasian haplogroups followed by haplogroups native to South Asia and a small fraction from East Asian lineages. In population comparisons, this ethnic group differed significantly from several other ethnic groups from Pakistan and surrounding countries. These results suggest that frequency estimates for mtDNA haplotypes should be determined for endogamous ethnic groups individually instead of pooling data for these subpopulations into a single dataset for the Pakistani population. Data presented here may contribute to the accuracy of forensic mtDNA comparisons in the Pathans of Pakistan.     

Forensic evaluation of mtDNA in a population from south west Switzerland

The polymorphism of the two hypervariable segments (HVI and HVII) of the control region of mtDNA was analyzed in a population of 154 unrelated individuals from south west Switzerland using a fluorescent based capillary electrophoresis sequencing method. In our population data of 154 random individuals, 137 mtDNA types were observed. Of these, 124 sequences were observed only in one individual whereas 10 sequences were observed in 2 individuals, 2 sequences in 3 individuals and 1 sequence in 4 individuals. The probability of two unrelated individuals having the same sequence was 0.84%. The results were compared with four other Caucasian populations. Furthermore, the usefulness of the mtDNA sequencing was tested, for exclusion and inclusion, in 18 forensic cases including 69 evidence samples and 44 reference samples. Despite the fact that 55% of the evidence samples yielded a negative result for the nuclear DNA with the human dot quantitation system, the success rate of the mtDNA sequencing was 71.0%. This validation study proves the great usefulness and sensitivity of the mtDNA sequencing technique using nested PCR and fluorescent capillary electrophoresis.     

An investigation of the TH01 locus in a population from northern Thailand

The STR locus HUMTH01 was studied in 110 unrelated Thais from the area of Chiang Mai in North Thailand. By using PCR and vertical PAGE, six alleles were identified and the frequencies ranged from 0.005 to 0.400. The allele frequency distribution in this population showed significant differences from a Japanese population and other ethnic populations but was similiar to Asians in the USA and Australia. The genotype distribution meets Hardy-Weinberg expectations. The average power of exclusion (in no-parent and one-parent cases) and the discriminating power (DP) were calculated to be 0.3020, 0.4761 and 0.8722 respectively. Received: 9 December 1996 / Received in revised form: 7 April 1997     

Sequence polymorphisms of the mitochondrial DNA control region and phylogenetic analysis of mtDNA lineages in the Japanese population

Sequence polymorphisms of the hypervariable mitochondrial DNA (mtDNA) regions HVI and HVII, and coding region polymorphisms were investigated in 211 unrelated individuals from the Japanese population. Sequence comparison of the HVI and HVII regions led to the identification of 169 mitochondrial haplotypes defined by 147 variable positions. Among them 145 types were observed in only 1 individual; the other 24 types were shared by 2 or more individuals. The gene diversity was estimated at 0.9961, and the probability of two randomly selected individuals from the population having identical mtDNA types was 0.86%. We also established phylogenetic haplogroups in the Japanese population based on the coding and control region polymorphisms and compared the haplotypes with those in other Japanese, Korean and Chinese populations. As a result, three new subhaplogroups, G4a, G4b, and N9b, and several haplotypes specific for the Japanese and Korean populations were identified. The present database can be used not only for personal identification but also as an aid for geographic or phenotype (race) estimation in forensic casework in Japan.Electronic Supplementary Material Supplementary material is available for this article if you access the article at     

Isolation and characterization of human DNA from mosquitoes (Culicidae)

Human DNA was prepared from mosquitoes (Culicidae) which were collected in a room shared by four human individuals. Several insects did not contain human blood and DNA preparation from them was not successful. However, high molecular weight human genomic DNA could be isolated from four insects. HLA-DQα and D1S80 analysis showed that the blood from one insect was a mixture from two persons, whereas the others contained blood from single individuals. Human DNA isolated 26 h after ingestion was still suitable for typing. These results showed that DNA isolated from mosquitoes is qualitatively and quantitatively sufficient for DNA typing and could be helpful to identify individuals involved in certain cases of body violence or captivity. Received: 3 November 1997 / Received in revised form: 21 July 1998     

Analysis of the short tandem repeat systems HumVWA and HumF13B in a population sample from northern Thailand

Two STR systems (HumVWA, HumF13B) were analysed in a northern Thailand population sample using PCR and gel electrophoresis. No deviations from Hardy-Weinberg equilibrium were observed. A rare VWA allele was detected, sequenced and the molecular structure is presented. Interpopulation comparisons revealed that the Thai allele frequencies were most similar to data from other Asian populations. Received: 1 January 1997 / Received in revised form: 20 February 1997     

Forensic and criminologic aspects of murder in North-West (Epirus) Greece

Little information is presenting in Greek literature regarding forensic and criminological aspects of homicide in North-West Greece. Autopsy reports and the prosecution authorities' files were respectively analyzed with regard to individual characteristics of perpetrators and victims, circumstances, and mode of commitment in order to comprehensively characterize relevant forensic and criminologic aspects. In the 8-year period from January 1998 to May 2005, 26 homicide cases were autopsied in the Department of Forensic Medicine and Toxicology, University of Ioannina, Greece. Twenty-nine homicide victims (18 males, 11 females; mean age 47 years) and 26 offenders were involved--20 single, 4 multiple-offenders and 2 were not known (24 males, 2 females; mean age 35 years). The most common method used for homicide was gunshot trauma (41.4%). Head injuries and multiple trauma were the most common cause of fatal injuries. Most homicides took place outside in a deserted area or close to agricultural side (n=12). Fifty percent (n=13) of all cases the offender and the victim were known to each other (acquaintances). Twenty-three cases were categorized as "single" homicides and 3 as "multiple" and the victims were classified; 20 as murder-physical injury with fatal outcome, 2 homicide-suicide, 1 infanticide, 4 matricide, and 2 as patricide.     

Forensic species identification of elephant (Elephantidae) and giraffe (Giraffidae) tail hair using light microscopy

Here we present methods for distinguishing tail hairs of African elephants (Loxodonta africana), Asian elephants (Elephas maximus), and giraffes (Giraffa camelopardalis) from forensic contexts. Such hairs are commonly used to manufacture jewelry artifacts that are often sold illegally in the international wildlife trade. Tail hairs from these three species are easily confused macroscopically, and morphological methods for distinguishing African and Asian tail hairs have not been published. We used cross section analysis and light microscopy to analyze the tail hair morphology of 18 individual African elephants, 18 Asian elephants, and 40 giraffes. We found that cross-sectional shape, pigment placement, and pigment density are useful morphological features for distinguishing the three species. These observations provide wildlife forensic scientists with an important analytical tool for enforcing legislation and international treaties regulating the trade in elephant parts.     

Forensic and phylogenetic characterization of 15 autosomal STRs in Hazara population of Pakistan

In the current study, 217 unrelated individuals of the Hazara population were genotyped for 15 autosomal short tandem repeats to generate parentage and forensic efficacy parameters. Hazaras belong to the Shi’a sect and are recognized by their Turko-Mogholi features. We found that D2S1338 was the most discriminatory locus with a maximum power of exclusion and high value of polymorphism information content. Whilst the Combined Power of Discrimination (CPD), Combined Matching Probability (CMP) and Combined Power of Exclusion (CPE) were 0.999999999999999, 2.76796338879E^-17 and 0.999999040733479 respectively. Furthermore, the pattern of genetic affinity with genetically assumed related populations was demonstrated through Heat Map and Phylogenetic analysis, which revealed a great level of genetic closeness of Hazaras with Mongol population and descendants of Genghis Khan. The resulting data can be used for forensic applications and anthropological studies.     

A study of Thai cobra (Naja kaouthia) bites in Thailand

This study evaluated factors affecting the severity of bite site necrosis and systemic symptoms resulting from envenomation among patients bitten by Thai cobras (Naja kaouthia) in Thailand. We studied 45 victims prospectively. An additional 40 medical records were obtained for a retrospective study. Collected data included gender of the victims, anatomic locations of bites, where attacks took place, and predisposing factors and how they might have affected the clinical course. Most patients were asymptomatic or mildly symptomatic. Neurotoxic symptoms and respiratory failure developed in 31.11% and 12.50% in the prospective and retrospective groups, respectively. Only one patient died, from the effects of prolonged respiratory failure. There was some degree of tissue necrosis at the bite site for almost all victims. One victim required amputation of a digit in the retrospective study, and 33.60% of the prospective group and 20% of the retrospective group required minor surgical debridement. Snakebites in Thailand are still a public health problem, although rapid urbanization has decreased the number of victims because of degradation of the snake's habitat.     

Forensic characterization and statistical considerations of the CaDNAP 13-STR panel in 1,184 domestic dogs from Germany,Austria, and Switzerland

Crime scene samples originating from domestic dogs such as hair, blood, or saliva can be probative as possible transfer evidence in human crime and in dog attack cases. In the majority of such cases canine DNA identification using short tandem repeat (STR) analysis is the method of choice, which demands, among others, a systematic survey of allele frequency data in the relevant dog populations. A set of 13 highly polymorphic canine STR markers was used to analyze samples of 1,184 dogs (including 967 purebred dogs) from the so-called DACH countries (Germany, Austria, Switzerland). This CaDNAP 13-STR panel has previously been validated for canine identification in a forensic context. Here, we present robust estimates of allele frequencies, which are essential to assess the weight of the evidence by estimating the probability of a matching DNA profile within the dog population under question, e.g. in the form of a random match probability (RMP). The geographical provenance of the tested dogs showed a negligible influence on the observed genotype variation. Therefore, we combined the STR data from all three countries into a single dog population sample (DPS). In contrast, pronounced genetic differentiation between dog breeds was found by principal component analysis and sub-structure analysis with the STRUCTURE software. These findings entailed the need to account for the effects of DPS breed composition on allele frequency estimates. A possible strategy, which was favored here, relies on collecting a DPS that is guided by the breed composition of the relevant dog population. In total, dogs from 166 different breeds were included in our DPS, 64 of them including at least 5 individuals (n = 771 dogs). Sampling reflected the abundance of breeds in the DACH countries with the following being the most common ones: German Shepherds (population frequency: 14.3%), Dachshunds (5.9%), Labrador Retrievers (3.9%), and Golden Retrievers (3.2%). The pedigree listing of the purebred dogs in our DPS ranked German Shepherds (DPS frequency 8.5%) first, followed by Labrador Retrievers (3.9%), Golden Retrievers (3%), and Dachshunds (2.5%). RMP values based on overall allele frequencies and accounting for substructure using F_ST between breeds ranged between 10-13 and 10-14 and represent a conservative approach of RMP assessment.     

Detection of age-related duplications in mtDNA from human muscles and bones

Several studies have demonstrated the age-related accumulation of duplications in the D-loop of mitochondrial DNA (mtDNA) extracted from skeletal muscle. This kind of mutation had not yet been studied in bone. The detection of age-related mutations in bone tissue could help to estimate age at death within the context of legal medicine or/and anthropological identification procedures, when traditional osteological markers studied are absent or inefficient. As we detected an accumulation of a point mutation in mtDNA from an older individual’s bones in a previous study, we tried here to identify if three reported duplications (150, 190, 260 bp) accumulate in this type of tissue. We developed a sensitive method which consists in the use of back-to-back primers during amplification followed by an electrophoresis capillary analysis. The aim of this study was to confirm that at least one duplication appears systematically in muscle tissue after the age of 20 and to evaluate the duplication age appearance in bones extracted from the same individuals. We found that the number of duplications increase from 38 years and that at least one duplicated fragment is present in 50% of cases after 70 years in this tissue. These results confirm that several age-related mutations can be detected in the D-loop of mtDNA and open the way for the use of molecular markers for age estimation in forensic and/or anthropological identification.     

Forensic and clinical carbon monoxide (CO) poisonings in Turkey: A detailed analysis

Carbon monoxide (CO) is produced by incomplete combustion of organic compounds. Its intoxication usually results from inhalation of fumes from improper heating stoves, motor vehicles, or smoke from fires. It can reversibly bind various heme-containing proteins such as hemoglobin, myoglobin, cytochrome p450 and cytochrome oxidases. Among them, it has a high affinity for hemoglobin (230–270 times more avidly than oxygen) with which it forms carboxy-hemoglobin (HbCO) leading to decrease in oxygen-carrying capacity followed by end-organ hypoxia. A tissue hypoxia may then result in transient or permanent damage of important organs like central nervous system and even death. CO poisonings from different reasons are an important cause of morbidity and mortality in Turkey. The purpose of this study on CO poisonings in Turkey is to sum up and analyze the best available researches in both forensic and clinical toxicology fields. This was achieved by synthesizing the results of Turkish and English papers on forensic and clinical CO poisoning cases conducted in universities, institutes, hospitals and other official or private organizations in Turkey. Total of 47,523 medico-legal autopsy data collected from 9 different forensic medicine branches and emergency rooms in different year intervals were reviewed and 980 CO poisoning cases were determined. To calculate the frequency of CO poisoning within all the autopsies carried out and fatal poisoning cases, the number of cases was divided by the total number of medico-legal autopsies and total fatal poisoning cases. The mean age of cases, the source of CO gas, the most common seasons and months, gender, and blood HbCO levels were also taken into consideration if the data is available. Under the light of the findings, we may suggest that determination of affecting factors in CO poisoning is going to be one of the key subjects for planning preventive interventions.     

Forensic discrimination of menstrual blood and peripheral blood using attenuated total reflectance (ATR)-Fourier transform infrared (FT-IR) spectroscopy and chemometrics

International Journal of Legal Medicine - Body fluids are one of the most important pieces of evidence encountered in forensic cases especially in cases of sexual assault. Analysis of such evidence...