Evaluating the informative power of Y-STRs: a comparative study using European and new African haplotype data

Male individuals from Maputo (Mozambique) were sampled and 18 Y-STRs were typed: the nine currently used to define the "minimal haplotype" employed in the European, American and Asian "Y-STR Haplotype Reference Databases", as well as the recently described DYS434, DYS437, DYS438, DYS439, DYS460, DYS461, GATA A10, GATA C4 and GATA H4. Allele and haplotype frequencies were estimated in a sample of 112 individuals, where it was possible to define 101 haplotypes, with an observed haplotype diversity (HD) of 0.9973. Allele diversity varied between 0.0179 and 0.9220, DYS385 showing the highest level of polymorphism and DYS392 the lowest. When considering only the most recent Y-STRs, the degree of diversity varied between 0.4011 (DYS438) and 0.6910 (GATA C4), except for DYS434 and DYS437 where a very low diversity was observed (0.0700 and 0.0526, respectively). When analysing the same 112 individuals for the nine Y-STRs included in the minimal haplotype, 78 haplotypes were distinguished with a corresponding observed diversity of 0.9884, a considerably lower value than those for Northern Portugal (n=208; HD: 0.9925) and Macao (n=63; HD: 0.9990). Concerning all 18 Y-STRs studied in this population, the observed diversity demonstrates their usefulness in forensic applications, with the exception of DYS434, DYS437 and DYS392. However, since the informative power of a marker has to be judged in haplotype context, a simple software, allowing the evaluation of the increase of HD through the addition of any combination of new markers to the minimum haplotype was designed. The statistical approach devised, demonstrates that an increment on HD is more rapidly obtained for the Mozambican database when adding GATA A10 or DYS439, DYS460, GATA C4, DYS461 or GATA H4, in this order, to the minimal haplotype. DYS434, DYS437 and DYS438, in conjunction with all the other 15 Y-STRs, do not contribute to an increment on HD. When applying the same approach to an European sample (Northern Portugal), the first three Y-STR choices coincide, but the next order of markers are GATA H4, then DYS437 and finally DYS461. In this sample, DYS434, DYS438 and GATA C4 do not increment HD any further.     

Y-chromosome STR haplotypes in two population samples: Azores Islands and Central Portugal

The Y-chromosome haplotypes defined by nine STRs (DYS19, DYS385, DYS389I, DYS389II, DYS390, DYS391, DYS392 and DYS393) were studied in 207 unrelated individuals from Central Portugal and 63 from Azores Islands. The most common haplotype in Central Portugal was shared by 3.4% of the males, while 160 haplotypes were unique. In Azores Islands the most common haplotype was shared by 6.4% of the males, while 40 haplotypes were unique. The values of haplotype diversity were 0.993 for Central Portugal and 0.976 for Azores Islands.     

Grouping of Y-STR haplotypes discloses European geographic clines

Y-STR haplotypes are widely studied in Europe and an extensive databasing effort has been conducted (http://www.ystr.org). The distribution of these haplotypes has been considered to present no evidence for substructure at central and southern European level. This picture contrasts with the one that results from Y haplogroups defined by binary markers. This paradox has been solved by admitting that the high STR mutation rate and corresponding recurrence has erased geographic structuration. This explanation prompted us to reanalyse Y-STR haplotypes distribution bearing in mind the commonly admitted model for the generation of diversity in these markers, namely the stepwise mutation model (SMM) and, thus, taking the molecular distance between haplotypes into consideration. Accordingly, we have studied the European distribution of the two most frequent haplotypes in the Iberian Peninsula and their one step neighbours using the European samples deposited in the Y STR database (http://www.ystr.org). For the first group we found a clear-cut decreasing W-E gradient, while for the second the highest frequencies were found in the Iberian Peninsula (3.98% in Portugal and 3.85% in Spain), dropping to 2.88% in France and showing a less well defined SW-NW gradient. Furthermore, we have tested the agreement between haplotype groups and binary markers haplogroups in a random sample of 292 individuals from Northern Portugal. Our results demonstrate that (a) Y-STR haplotype data can be used for wide-scale anthropological approaches disclosing information that has been considered only available through binary markers and (b) forensic use of continental databases needs careful refinement, due to the macro-geographic pattern now evidenced.     

Two fatal intoxication cases with imidacloprid: LC/MS analysis

Imidacloprid [1-(6-chloro-3pyridylmethyl)-N-nitroimidazolidin-2-ylideneamine] is a new and potent nitromethylene insecticide with high insecticidal activity at very low application rates. It is the first highly effective insecticide that, like nicotine, acts on the nervous system, causing blockage of postsynaptic nicotinergic acetylcholine receptors. Two fatal cases with this insecticide in two male individuals, of 33 and 66 years old, are presented. An LC/MS with electrospray method for measuring imidacloprid and its metabolites in post-mortem samples is described. In the chromatographic separation, a reverse-phase column XTerra MS C18 (2.1mm i.d.x 150 mm, 5 microm) was used and the mobile phase composed with acetonitrile and 0.1% formic acid (15:85), at a 0.25 mL/min flow rate. Samples were prepared with a liquid-liquid extraction procedure with dichloromethane. Calibration curves for imidacloprid in blood and urine samples were linear from 0.2 to 15 microg/mL. The mean recovery was 86% with a coefficient of variation of +/-5.9%. The detection limit was 0.002 microg/mL. Quantitative results were obtained for all post-mortem matrices available of the two fatal cases: blood, urine, stomach contents, lung, liver and kidney. The imidacloprid blood concentrations found in two-cases were 12.5 and 2.05 microg/mL. The authors validated a method to detect and quantify imidacloprid in post-mortem samples, and to our knowledge for the first time a post-mortem tissue distribution was performed on various samples for this insecticide.     

Identifying the cutoff score for the PCL-R scale (psychopathy checklist-revised) in a Brazilian forensic population

This study introduces a Portuguese-language version of psychopathy checklist-revised (PCL-R) [Harv. Mental Health Lett. 12 (1995) 4] in the Brazilian penitentiary system. Hare's scale is used extensively in many other countries. In a forensic population sample of 56 male subjects classified as psychopaths and non-psychopaths [Manual for the Hare Psychopathy Checklist-Revised, Multi-Health System, Toronto, 1991], 33 correlated to global personality disorder (GPD) and 23 to partial personality disorder (PPD), respectively, subtypes of antisocial personality disorder [Manual for the Hare Psychopathy Checklist-Revised, Multi-Health System, Toronto, 1991]. Subjects were evaluated through psychiatric and neurological examinations, review of judicial records, Rorschach and PCL-R. A control group of 30 subjects without criminological or psychiatric history was also evaluated with the same instruments. PCL-R validation and identification of cutoff score for Psychopathy (GPD group) was assessed through the concurrent use of the Rorschach. PCL-R cutoff score for the Brazilian population was set at 23. Sensitivity was determined at 84.8%, and reliability was high (Kappa index = 0.87). GPD individuals were characterized as clearly psychopathic according to PCL-R criteria while PPD individuals can only be considered mildly psychopathic, with better chance of rehabilitation.     

Fatal traffic injuries among pedestrians, bicyclists and motor vehicle occupants

The objective of this study was to investigate characteristic injuries of pedestrians and bicyclists (unprotected) compared to motor vehicle occupants' (protected) in fatal traffic accidents. Cases of 664 fatal traffic accidents (371 pedestrians, 45 bicyclists, and 248 motor vehicle occupants) were collected from 1999 to 2001 using the database of the Forensic Institute in Budapest. Autopsy reports were analyzed. Location of injuries, blood alcohol levels, seasonal distribution and natural diseases influencing accident outcome were evaluated. For statistical analysis, odds ratio (OR) with 95% confidence interval (CI) was used by a conditional logistic regression. There were substantial differences in distribution of injuries suffered by pedestrians, bicyclists and motor vehicle occupants. Among pedestrians and bicyclists there was a higher rate of head injuries, such as skull fractures, epidural haemorrhage, subdural haemorrhage, brain contusion, and injuries of the lower extremities. Thoracic damages, such as traumatic aortic rupture, hemothorax, and abdominal damages, like liver rupture were dominant in motor vehicle occupants. Considering existing natural diseases, coronary artery disease was the only one with higher occurrence among motor vehicle occupants 24 (9.7%) compared with pedestrians and bicyclist 36 (8.6%). These results underline the importance of preventive strategies in transportation, pointing out that different methods are necessary to reduce fatal injuries of various traffic participants.     

SNPs in forensic genetics: a review on SNP typing methodologies

There is an increasing interest in single nucleotide polymorphism (SNP) typing in the forensic field, not only for the usefulness of SNPs for defining Y chromosome or mtDNA haplogroups or for analyzing the geographical origin of samples, but also for the potential applications of autosomal SNPs. The interest of forensic researchers in autosomal SNPs has been attracted due to the potential advantages in paternity testing because of the low mutation rates and specially in the analysis of degraded samples by use of short amplicons. New SNP genotyping methods, chemistries and platforms are continuously being developed and it is often difficult to be keeping up to date and to decide on the best technology options available. This review offers to the reader a state of the art of SNP genotyping technologies with the advantages and disadvantages of the different chemistries and platforms for different forensic requirements.     

Estimation of fetal age from dimensions of atlas and axis ossification centers

The atlas and axis ossification centers of 106 human fetal and neonate skeletons were measured. The skeletons belong to the collection in the Department of Forensic Medicine of the Albert Szent-Gy?rgyi Medical University, Szeged, Hungary. The age of the skeletons ranged from 4 to 10 lunar months. Nine linear measurements on the atlas, seven on the axis neural arches ossification centers and three on each one of the axis centra ossification centers were taken. We did simple and multiple linear regression analysis to estimate the age of fetuses. The results show that it is possible to use regression equations to estimate the fetal body length and age from atlas and axis ossification centers measurements during the whole period of development studied. The study of size and shape of the ossification centers using factorial analysis (principal component analysis) shows that the shape of the dens of the axis might be useful to estimate fetal viability.     

Hart's Jurisprodence: Its relation to Philosophy

The essay concerns the way jurisprudence adapts to the challanges set by contemporary philosophy concentarting upon the case of Hart"s legal theory. Hart produced one paradigm of linking philosphical considerations to jurisprudential analyses. He seemed to believe that the investigation of legal phenomena must itself raise and answer the underlying philosophical questions (only occasionally relying on philosophical sources). Although Hart was well aware of the rising new philosophy of his time, he sought to elaborate an autonomus conceptual framework for philosophical jurisprudence. The essay often takes Wittgenstein as an example for elucaidating Hart"s relation to philosophy (although critizing those who believe that Hart"s is a key figure in the jurisprudential reception of Wittgenstein"s later philosophy). The essayjustifies Hart"s claim to gain theoretical autonomy but points to three mistakes in that prespect. (1) He sometimes misconcieved his philodophical sources owing to the fact that he refrained from analyzing them. (2) Hart justified some of his crucial claims by a combination of arguments that is not entirely consistent. (3) His standpoint often raised philosophical issues but sometimes failed to make an identifiable point upon them. The essay concludes that Hart was right in thinking that the time had come to reconsider the conditions of making theories about law but he couild not justify his assumption that the reconsideration would lead to certain kind of comprehensive theory of law.     

Application of automatic image analysis (IBAS system) to age calculation. Efficiency in the analysis of several teeth from a single subject.

In a previous paper (M. López-Nicolás et al., Forensic Sci. Int., 45 (1990) 143-150) we obtained a model of multiple regression to estimate age using computerized image analysis (IBAS) to study teeth. This method should provide more precise measurements of the parameters involved and to test this hypothesis we have carried out a blind study using more than one tooth from the same individual in order to check the diagnostic accuracy of the method. Our results show that individual variability introduced serious errors in tooth age estimation using computerized image analysis. However the study of more than one tooth per individual improves the accuracy of age estimation. Specific cases should therefore be interpreted cautiously, as a degree of variability can be expected using the parameters defined in this method.