Population genetics of nine short tandem repeat loci: allele frequency distribution in a Brazilian population sample

Gene and genotype frequencies in relation to the D3S1358, vWA, FGA, TH01, TPOX, CSF1PO, D5S818, D13S317, and D7S820 loci were determined in a sample of 290 unrelated individuals (204 Caucasians and 86 mulattoes) living in the city of S?o Paulo, Brazil. The sex test Amelogenin was also performed in all subjects from our sample, revealing the expected sex in all instances. Allele frequency data obtained from the analysis of these samples were in the usual range of other population groups with similar racial background. In the sample of Caucasian individuals, panmictic proportions were ruled out in relation to TPOX and CSF1PO loci, but only in the latter was the overall frequency of heterozygotes significantly less than expected. In the sample of mulattoes, Hardy-Weinberg proportions were rejected in relation to FGA and CSF1PO loci, but in no instance were the overall numbers of heterozygotes different from the corresponding expected ones under panmixia. Taking into account all this and also the number of tests performed, the degree of genetic heterogeneity of Brazilian populations, and the critical level reached by the significant results (1% < alpha<5%), the departures from panmixia here observed can be considered to be negligible in altering significantly biologic relationship odds calculated under the assumption of random matings.     

Glycated hemoglobin: a useful post-mortem reference marker in determining diabetes

Glycated hemoglobin (HbA(1c)) has been demonstrated to be a useful marker for long-term glucose control in diabetes. This parameter characterizes each non-enzymatic fixation of glucose on hemoglobin. It is a useful test in addition to periodic glycemia controls since it reflects the mean glycemia of the past 60 days. We studied the conservation of HbA(1c) at 4 degrees C as a function of time with different anti-coagulants and preservatives (3, 6 months, 1 year). A total of 106 tests were performed using the high performance liquid chromatography (HPLC) method dedicated to the semi-automatic analysis of HbA(1c) (Bio-Rad) and we applied the method in forensic cases. Conservation at 4 degrees C was good for as long as 3 months in blood samples collected with fluoride and 6 months in samples collected in a dry or in a heparinized tube. In non-diabetic subjects, HbA(1c) reference values obtained from forensic samples were identical to those of living controls (3.5-6.25% of total hemoglobin). All positive HbA(1c) results were confirmed by a medical evaluation. This method was successfully applied to five forensic cases. In cases of increased acetonemia, acetone or isopropanol are easily measured. However, in some unexplained post-mortem circumstances, increased HbA(1c) permits to differentiate alcoholic or starvation ketoacidosis from the diabetic cases. Glycated hemoglobin should, therefore, be considered the forensic marker of choice in the post-mortem diagnosis of a diabetic disorder and demonstrates its usefulness in post-mortem validation.     

Masterstatus, Familie und Geschlecht

Intention des Beitrages ist es, Geschlecht und Familie auf der Basis eines institutionenorientierten Lebenslaufansatzes neu zu durchdenken. Die Zentrierung auf gesellschaftliche Institutionen als Orte der Vermittlung von individuellem Handeln und sozialstrukturellen Bedingungen ermöglicht es, mikro-, meso- und makrosoziale Interdependenzen in den Mittelpunkt zu rücken und bisher zum großen Teil verdeckten, da indirekten Strukturierungen von Geschlechterverhältnissen auf die Spur zu kommen. Aus dieser Perspektive relativiert sich die in der Lebenslaufforschung dominierende Individualisierungs-These zugunsten der Erkenntnis, dass Individuen sich durch institutionelle Eigenlogiken untereinander vernetzt sehen, die sie in neue Zwickmühlen bringen. Der Beitrag von Lebenslauf-Institutionen zur Rekonstruktion einer Geschlechterordnung gerät zwar zunehmend in Widerspruch zu Anforderungen an das individuelle Management der eigenen Biographie, doch der relationale Bezug zwischen Institutionen scheint Familie und Geschlecht weder aus ihren subjektiven Verpflichtungsmustern zu entlassen, noch aus ihrer sozialstrukturellen Vermittlerrolle zwischen biographischen Optionen und inkompatiblen institutionellen Verfügbarkeits-Ansprüchen.     

A simulation model of tobacco youth access policies

Empirical studies have found that policies aimed at reducing youth access to tobacco have been successful at increasing retail compliance, but their effects on actual tobacco use are mixed. This article presents a model of youth access policies that helps explain the apparently conflicting results in the extant literature, provides a framework for future empirical studies, and suggests implications for public policy. Our model highlights the interaction of components in a well-designed policy, including sufficient compliance checks, penalties, and community involvement. It also illustrates why it will be difficult to eliminate all of youth supply. Nonretail sources, such as borrowing or stealing from parents and siblings and purchasing from older peers through black markets, are an important component of youth supply and become more important as retail access is reduced. The analysis is limited to policies that affect the retail supply of cigarettes but suggests the need for other policies that affect the demand for cigarettes, such as taxes and cessation policies, in order to further reduce youth smoking rates.     

Metal and metalloid multi-elementary ICP-MS validation in whole blood, plasma, urine and hair. Reference values

Four multi-elementary metal and metalloid quantification methods using inductively coupled plasma mass spectrometry (ICP-MS) were developed and validated in human whole blood, plasma, urine and hair by means of a single preparation procedure for each sample. The ICP-MS measurements were performed using a Thermo Elemental X7CCT series and PlasmaLab software without a dynamic reaction cell. With this procedure 27-32 elements can be simultaneously quantified in biological matrices: Li, Be, B, Al, V, Cr, Mn, Co, Ni, Cu, Zn, Ga, Ge, As, Se, Rb, Sr, Mo, Pd, Ag, Cd, Sn, Sb, Te, Ba, W, Pt, Hg, Tl, Pb, Bi, U. Whole blood, plasma and urine samples (0.4 ml each) were diluted with purified water, acid, triton X100 and butanol. Rhodium was used as internal standard. The urine sample results were corrected for enzymatic creatinine determination. Twenty-five milligrams hair samples were acid mineralized after a decontamination procedure and diluted as previously described for biological fluids. To be validated, each element had to show linearity with a correlation coefficient higher than 0.99. The intra-assay and inter-assay inaccuracy, measured as the variation coefficient, were below 5 and 10% respectively. Global performance was assessed by a quality control program. Our laboratory is a registered participant of the Institut National de Santé Publique du Québec (Sainte-Foy, Canada) inter-laboratory comparison program for whole blood, urine, and beard hair of non-occupationally exposed individuals spiked with selected elements. In our study multi-element metal and metalloid analysis was assessed for 27 elements in whole blood, 27 elements in plasma, 30 elements in urine and 32 elements in hair, from 0 to 25, or 250 to 1000 ng/ml, depending on the element. Quantification limits ranged from 0.002 ng/ml (U) to 8.1 ng/ml (Al) for whole blood, from 0.002 ng/ml (U) to 7.7 ng/ml (Al) for plasma, from 0.001 ng/ml (U) to 2.2 ng/ml (Se) for urine, and from 0.2 pg/mg (Tl) to 0.5 ng/mg (B) for hair. Normal values were determined in whole blood (n=100), plasma (n=100), urine (n=100), and hair (n=45) of healthy volunteers, leading to approximately 10,000 analyses. All results are presented and discussed. Clinical toxicology and forensic toxicology applications are also reported. ICP-MS has made significant advances in the field of clinical biology, particularly in toxicological analysis. This is due to the use of extremely effective equipment that permits better clinical and forensic toxicological analysis of metal and metalloid status of each individual patient.     

Mitochondrial DNA error prophylaxis: assessing the causes of errors in the GEP'02-03 proficiency testing trial

A qualitative and quantitative analytical method was developed and validated for the determination of 49 licit and illicit drugs in oral fluid. Small oral fluid samples, volume 1mL, were collected from volunteers using a modified Omni-Sal device and the analytes were extracted from an oral fluid/buffer mixture using a single Bond Elut Certify solid phase extraction cartridge. Liquid chromatography-tandem mass spectrometry (LC-MS-MS) and gas chromatography-repetitive full scan mass spectrometry (GC-MS) were used in parallel to analyze the extracts for the targeted drugs. Extracts were analyzed by GC-MS in their underivatized form and as their pentafluoropropionyl derivatives. Deuterated internal standards were used for quantification of drugs of abuse by LC-MS-MS to minimize matrix effects. Methadone-d(9) and tumoxetine were used as the internal standards for quantification of non-derivatized and derivatized analytes respectively by GC-MS. Linearity was demonstrated over the range 5-200 ng/mL and limits of detection were less than 4 ng/mL for each drug analyzed. The method demonstrated acceptable recoveries for most of the analytes and good intra- and inter-day precision. Acquisition of data by repetitive full scan GC-MS allows the addition of further analytes to the target menu.     

A case of commingled remains from rural South Africa

In the spring of 2003, bush cutters discovered a large grain bag filled with human skeletal remains in a forest in South Africa. Differential taphonomic processes observed on the bones suggested that the individuals had not died at the same time or had decomposed under different circumstances. The remains were sorted using gross morphological techniques which included assessing the number of skeletal elements present, visual pair matching, articulation, process of elimination and taphonomy. Standard techniques were used to estimate age, sex, racial affinity and stature. A minimum number of individuals (MNI) of 10 was established, which included 7 adult males, 1 adult female and 2 juveniles. Trauma was observed on only one individual. Approximately, 80% of the skeletal remains were missing. These various skeletal elements may have been lost by accident, normal taphonomic processes or taken by scavengers. Possible origins for these skeletal remains include removal from a formal grave, found in the veldt or murdered.     

Eight short tandem repeats (STR) frequencies for descendants from Terena indigenous Brazilian group

POPULATION: descendants from Terenas an indigenous group.