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This article reports the determination of phenobarbital in the mummified body of a 56-year-old man found completely mummified 10 years after his death. When alive, he was being treated for epilepsy with phenobarbital, and the recent analyses, performed with both immunochemical techniques and gas chromatography with mass spectrometry (GC-MS), have revealed the presence of this substance in various tissues: the mean content of barbiturate in the mummified liver tissue was 93 μg/g, 216 μg/g in the heart, 17 μg/g in the lungs, 12 μg/g in muscles, and 31 μg/g in the skin. Preliminary screening tests with immunochemical techniques to evaluate the presence of other drugs were also performed. The sample resulted negative for all substances tested. Phenobarbital can be identified and quantified thanks to its excellent chemical stability and a hypothesis of what the concentrations in the fresh tissue could have been has also been reported.

Background: Phylogenetic and genetic analyses have proven a valuable tool to infer epidemiological links between human immunodeficiency virus type-1 (HIV-1) isolates. These methods were applied in the present report for studying the genetic relatedness of the viral strains involved in two episodes of suspected HIV-1 transmission. Objectives: Provide any evidence that may help establish or refute the transmission link. Study design: In the first case, a leukemic patient became HIV-1 positive following the transfusion of platelets from a donor who was subsequently found to have tested false HIV-seronegative and to be sexual partner to an infected woman. In the second, a wife claimed to have acquired the infection from her husband who had concealed his infected status. Results and conclusions: The viral pairs detected in each of the suspected transmission cases exhibited common amino acid signatures and low genetic distances and segregated together in phylogenetic trees, thus showing a level of genetic relatedness similar to reference pairs known with certainty to be epidemiologically linked. These findings corroborated the existence of a direct transmission link in both the episodes with a high level of confidence.

In a recent disputed paternity case involving a family of six siblings with deceased parents and a woman claiming to be half sib of them, the question asked by the judge concerned the significance of knowing the genotypes of the legitimate children for determining the probability of paternity. We addressed this problem both by an analytical method and by computer simulations. The chance of excluding a false relationship by at least three incompatibilities, if the relationship was false, was rather poor (0.123), whereas the chance of obtaining a high probability of paternity if the relationship was true was higher than 99.9% almost with certainty.

We report on 34 subjects from a small Italian town distributed among 13 different surnames. Their genealogies have been reconstructed to the most recent common ancestor, going back in a case to the 15th century, and their haplotypes at 12 Y-chromosome STR has been determined. Six surnames (14 subjects) did not show variation at any locus among isonymous individuals, whereas seven surnames (20 subjects) showed single-step differences at single loci (two in DYS391 and DYS390, the others in DYS385, DYS392 and DYS393); in addition, two subjects of two different surnames showed 8 and 9 locus differences, respectively.

This article reports the determination of phenobarbital in the mummified body of a 56-year-old man found completely mummified 10 years after his death. When alive, he was being treated for epilepsy with phenobarbital, and the recent analyses, performed with both immunochemical techniques and gas chromatography with mass spectrometry (GC-MS), have revealed the presence of this substance in various tissues: the mean content of barbiturate in the mummified liver tissue was 93 μg/g, 216 μg/g in the heart, 17 μg/g in the lungs, 12 μg/g in muscles, and 31 μg/g in the skin. Preliminary screening tests with immunochemical techniques to evaluate the presence of other drugs were also performed. The sample resulted negative for all substances tested. Phenobarbital can be identified and quantified thanks to its excellent chemical stability and a hypothesis of what the concentrations in the fresh tissue could have been has also been reported.

BACKGROUND: The usual set of autosomal markers (A-STRs) available in commercial kits is often insufficient to discriminate between close relationships when only two subjects are available for analysis. X-chromosome markers (X-STRs) provide higher statistical power in special cases. STUDY DESIGN AND METHODS: Formulas are derived for the probabilities of all possible genotype pairs for X-STRs of any sex combination for seven common relationships. The power of exclusion (PE) of X-STRs in parentage analysis is compared with that of A-STRs of equivalent distribution of allele frequency. RESULTS: Seventy-three equations were obtained, from which the likelihood ratio of any two alternative hypotheses about the relationship between two individuals can be obtained by division and simplification. For father-daughter and mother-son duos, the PE of X-STRs is almost twice the corresponding value of A-STRs for moderately low values of heterozygosity (0.6-0.75); for alleged pairs of sisters and pairs of half-sisters the PE is equivalent to that of A-STRs in parent-child duos. Considering four real unlinked X-STRs, the cumulative PE for father-daughter and mother-son duos was 99 percent, compared with 94 percent if they were autosomal. CONCLUSIONS: X-STRs can substantially increase the discrimination capacity of standard A-STRs in parentage analyses involving pairs of individuals. Up to four unlinked X-STRs may be treated as independent loci. When linked loci are included, computer programs that calculate pedigree likelihoods can be used.

Four X-chromosome markers (DXS101, HPRTB, DXS8377, and STRX-1) were typed in a population sample from Tuscany, Italy, using a single amplification reaction. Resolution of a deficiency paternity case involving two women (either they were half-sisters or non-relatives) was made possible by typing these marker in addition to 16 conventional autosomal markers.

A casework concerning two possible infanticides was solved by a Bayesian approach involving several hypotheses (the mother confessed the crimes following the DNA test). The genetic analysis initially concerned the dead body of an infant found in a rubbish dump and the retained placenta of a woman presenting with massive genital bleeding a year later. After the results of a first genetic test on the two infants, the woman and her current companion were also typed, and the posterior probability that they were parents of both infants was >0.9999, even assuming priors more favorable to the couple.

Six previously characterized STR loci with amplification products smaller than 125 bp have been typed in a sample of 100 unrelated subjects born in Tuscany, Italy, using a protocol involving two triplexes. These loci, called bminiSTRQ, represent promising tools for recovering genetic information from degraded DNA samples when standard loci generate partial profiles. D 2005 Published by Elsevier B.V.

The C3 and Bf polymorphisms were studied in 1,000 unrelated Italians. The gene frequencies were calculated and compared with other districts of Italy.