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6. Evaluation of critical aspects in clinical and forensic management of sexual violence: A multicentre Ge.F.I. project

Author

Gino, Sarah, primary, Bo, Marco, additional, Ricciardelli, Rossana, additional, Alù, Milena, additional, Boschi, Ilaria, additional, Carnevali, Eugenia, additional, Fabbri, Matteo, additional, Fattorini, Paolo, additional, Piccinini, Andrea, additional, Previderè, Carlo, additional, Verzeletti, Andrea, additional, Tozzo, Pamela, additional, and Caenazzo, Luciana, additional

Published
2020
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7. The molecular characterization of a depurinated trial DNA sample can be a model to understand the reliability of the results in forensic genetics

Author

Fattorini, Paolo, primary, Previderè, Carlo, additional, Sorçaburu‐Cigliero, Solange, additional, Marrubini, Giorgio, additional, Alù, Milena, additional, Barbaro, Anna M., additional, Carnevali, Eugenia, additional, Carracedo, Angel, additional, Casarino, Lucia, additional, Consoloni, Lara, additional, Corato, Silvia, additional, Domenici, Ranieri, additional, Fabbri, Matteo, additional, Giardina, Emiliano, additional, Grignani, Pierangela, additional, Baldassarra, Stefania Lonero, additional, Moratti, Marco, additional, Nicolin, Vanessa, additional, Pelotti, Susi, additional, Piccinini, Andrea, additional, Pitacco, Paola, additional, Plizza, Laura, additional, Resta, Nicoletta, additional, Ricci, Ugo, additional, Robino, Carlo, additional, Salvaderi, Luca, additional, Scarnicci, Francesca, additional, Schneider, Peter M., additional, Seidita, Gregorio, additional, Trizzino, Lucia, additional, Turchi, Chiara, additional, Turrina, Stefania, additional, Vatta, Paolo, additional, Vecchiotti, Carla, additional, Verzeletti, Andrea, additional, and De Stefano, Francesco, additional

Published
2014
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10. Demographic Histories, Isolation and Social Factors as Determinants of the Genetic Structure of Alpine Linguistic Groups

Author

Coia, Valentina, primary, Capocasa, Marco, additional, Anagnostou, Paolo, additional, Pascali, Vincenzo, additional, Scarnicci, Francesca, additional, Boschi, Ilaria, additional, Battaggia, Cinzia, additional, Crivellaro, Federica, additional, Ferri, Gianmarco, additional, Alù, Milena, additional, Brisighelli, Francesca, additional, Busby, George B. J., additional, Capelli, Cristian, additional, Maixner, Frank, additional, Cipollini, Giovanna, additional, Viazzo, Pier Paolo, additional, Zink, Albert, additional, and Destro Bisol, Giovanni, additional

Published
2013
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13. J1-M267 Y lineage marks climate-driven pre-historical human displacements

Author

Tofanelli, Sergio, primary, Ferri, Gianmarco, additional, Bulayeva, Kazima, additional, Caciagli, Laura, additional, Onofri, Valerio, additional, Taglioli, Luca, additional, Bulayev, Oleg, additional, Boschi, Ilaria, additional, Alù, Milena, additional, Berti, Andrea, additional, Rapone, Cesare, additional, Beduschi, Giovanni, additional, Luiselli, Donata, additional, Cadenas, Alicia M, additional, Awadelkarim, Khalid Dafaallah, additional, Mariani-Costantini, Renato, additional, Elwali, Nasr Eldin, additional, Verginelli, Fabio, additional, Pilli, Elena, additional, Herrera, Rene J, additional, Gusmão, Leonor, additional, Paoli, Giorgio, additional, and Capelli, Cristian, additional

Published
2009
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14. Cancerous Tissues in Forensic Genetic Analysis

Author

Pelotti, Susi, primary, Ceccardi, Stefania, additional, Alù, Milena, additional, Lugaresi, Federica, additional, Trane, Rachele, additional, Falconi, Mirella, additional, Bini, Carla, additional, and Cicognani, Alberto, additional

Published
2007
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15. Unusual concurrent detection by polymerase chain reaction of Bartonella henselae and parvovirus b19 in an immunocompetent child with erythema nodosum and hepatic granulomatous disease

Author

Casolari, Chiara, primary, Pecorari, Monica, additional, Balli, Fiorella, additional, Fabio, Giuliana, additional, Gennari, William, additional, Sabbatini, Anna Maria Teresa, additional, Nanni, Nadia, additional, Migaldi, Mario, additional, Guaraldi, Nicola, additional, Tagliazucchi, Sara, additional, Alù, Milena, additional, Bertoli, Gabriella, additional, Fabio, Rumpianesi, additional, and Portolani, Marinella, additional

Published
2007
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16. Validation of a large Italian Database of 15 STR loci

Author

Presciuttini, Silvano, primary, Cerri, Nicoletta, additional, Turrina, Stefania, additional, Pennato, Benedetto, additional, Alù, Milena, additional, Asmundo, Alessio, additional, Barbaro, Anna, additional, Boschi, Ilaria, additional, Buscemi, Loredana, additional, Caenazzo, Luciana, additional, Carnevali, Eugenia, additional, De Leo, Domenico, additional, Di Nunno, Cosimo, additional, Domenici, Ranieri, additional, Maniscalco, Michela, additional, Peloso, Gabriella, additional, Pelotti, Susi, additional, Piccinini, Andrea, additional, Podini, Daniele, additional, Ricci, Ugo, additional, Robino, Carlo, additional, Saravo, Luigi, additional, Verzeletti, Andrea, additional, Venturi, Marina, additional, and Tagliabracci, Adriano, additional

Published
2006
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17. Development of a heptaplex PCR system to analyse X-chromosome STR loci from five Italian population samples

Author

Bini, Carla, primary, Ceccardi, Stefania, additional, Ferri, Gianmarco, additional, Pelotti, Susi, additional, Alù, Milena, additional, Roncaglia, Enrica, additional, Beduschi, Giovanni, additional, Caenazzo, Luciana, additional, Ponzano, Elena, additional, Tasinato, Paola, additional, Turchi, Chiara, additional, Buscemi, Loredana, additional, Mazzanti, Morena, additional, Tagliabracci, Adriano, additional, Toni, Chiara, additional, Spinetti, Isabella, additional, Domenici, Ranieri, additional, and Presciuttini, Silvano, additional

Published
2005
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19. Post-transplant Kaposi sarcoma originates from the seeding of donor-derived progenitors

Author

Barozzi, Patrizia, primary, Luppi, Mario, additional, Facchetti, Fabio, additional, Mecucci, Cristina, additional, Alù, Milena, additional, Sarid, Ronit, additional, Rasini, Valeria, additional, Ravazzini, Luisa, additional, Rossi, Elisa, additional, Festa, Silvana, additional, Crescenzi, Barbara, additional, Wolf, Dana G., additional, Schulz, Thomas F., additional, and Torelli, Giuseppe, additional

Published
2003
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20. Allele sharing in first-degree and unrelated pairs of individuals in the Ge.F.I. AmpFlSTR® Profiler Plus™ database

Author

Presciuttini, Silvano, primary, Ciampini, Francesca, additional, Alù, Milena, additional, Cerri, Nicoletta, additional, Dobosz, Marina, additional, Domenici, Ranieri, additional, Peloso, Gabriella, additional, Pelotti, Susi, additional, Piccinini, Andrea, additional, Ponzano, Elena, additional, Ricci, Ugo, additional, Tagliabracci, Adriano, additional, Baley-Wilson, J.E, additional, De Stefano, Francesco, additional, and Pascali, Vincenzo, additional

Published
2003
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21. Post‐mortem diagnosis of encephalitis in a 75‐year‐old man associated with human herpesvirus‐6 variant A

Author

Portolani, Marinella, Tamassia, Maria Grazia, Gennari, William, Pecorari, Monica, Beretti, Francesca, Alù, Milena, Maiorana, Antonio, and Migaldi, Mario

Abstract

An HHV‐6 variant A infection is described in a 75 year‐old man in association with meningoencephalitis identified at autopsy. The patient presented with fever and anorexia, then he developed altered consciousness, motor weakness, progressive lethargy, and coma, and died 21 days after hospital admission. Histopathological examination showed perivascular lymphocytic infiltrates in the central nervous system (CNS). Serum and cerebral spinal fluid (CSF) samples drawn from the patient were tested for viruses by a nested polymerase chain reaction (nPCR). HHV‐6 primers A and C [Aubin et al., 1991: J Clin Microb 29: 367–372] and HS6AE and HS6AF from [Dewhurst et al. (1993): J Clin Microb 31: 416–418] disclosed a 750 bp genomic product of HHV‐6 in both types of biological samples. Restricted site analysis showed that the HHV‐6 DNA amplified belonged to the variant A of the virus. Short sequences of HHV‐6 DNA could also be detected in the DNA extracted from formalin‐fixed, paraffin‐embedded sections of CNS tissues by use of one (GM5 and GM6) of three pairs of HHV‐6 primers that were selected. Immunohistochemical examination of brain sections, employing a specific monoclonal antibody directed against the HHV‐6 gp 102 protein, detected the viral antigen in neurons and glial cells. J. Med. Virol. 77:244–248, 2005. © 2005 Wiley‐Liss, Inc.

Published
2005
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22. Allele sharing in first-degree and unrelated pairs of individuals in the Ge.F.I. AmpFlSTR® Profiler Plus™ database

Author

Presciuttini, Silvano, Ciampini, Francesca, Alù, Milena, Cerri, Nicoletta, Dobosz, Marina, Domenici, Ranieri, Peloso, Gabriella, Pelotti, Susi, Piccinini, Andrea, Ponzano, Elena, Ricci, Ugo, Tagliabracci, Adriano, Baley-Wilson, J.E., De Stefano, Francesco, and Pascali, Vincenzo

Subjects
*FORENSIC sciences, *GENE frequency
Abstract

Eleven Italian forensic laboratories participated in a population study based on the AB Profiler Plus™ loci with proficiency testing. The validated database, including 1340 individuals, is available on-line. Tests for Hardy–Weinberg equilibrium, gametic unbalance, and heterogeneity of gene frequency were generally not significant. Gene frequencies at each locus were consistent with those of two previously published Italian studies, but different from a third. Individuals of each subsample were paired, and the total number of alleles shared across the nine loci was determined in each pair. The analysis was replicated over the total sample. In addition, two samples of mother–child pairs (N=315) and full-sib pairs (N=91) were subjected to allele sharing analysis. The resulting distributions were sufficiently distinct from the sample of unrelated pairs as to be of practical usefulness. [Copyright &y& Elsevier]

Published
2003
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23. EVALUATION OF CRITICAL ASPECTS IN CLINICAL AND FORENSIC MANAGEMENT OF SEXUAL VIOLENCE: A MULTICENTRE GE.F.I. PROJECT

Author

Paolo Fattorini, Andrea Verzeletti, Eugenia Carnevali, Milena Alù, Ilaria Boschi, Pamela Tozzo, Andrea Piccinini, Sarah Gino, Marco Bo, Luciana Caenazzo, Rossana Ricciardelli, Carlo Previderè, Matteo Fabbri, Gino, Sarah, Bo, Marco, Ricciardelli, Rossana, Alù, Milena, Boschi, Ilaria, Carnevali, Eugenia, Fabbri, Matteo, Fattorini, Paolo, Piccinini, Andrea, Previderè, Carlo, Verzeletti, Andrea, Tozzo, Pamela, and Caenazzo, Luciana

Subjects
Male, Ethnic group, 01 natural sciences, 0302 clinical medicine, DNA testing, sexual axault, Sexual violence, Crime Victims, media_common, Aged, 80 and over, Human rights, Middle Aged, Identification (information), Italy, Homogeneous, Medical examination, Female, Psychology, Adult, Adolescent, media_common.quotation_subject, Socio-culturale, Forensic genetics, Polymorphism, Single Nucleotide, Healthcare professional, Specimen Handling, Pathology and Forensic Medicine, Young Adult, 03 medical and health sciences, Semen, Humans, 030216 legal & forensic medicine, Physical Examination, Aged, Retrospective Studies, Medical education, Chromosomes, Human, Y, Earnings, Sex Offenses, 010401 analytical chemistry, Sexual violence, Medical examination, Forensic genetics, Healthcare professional, Retrospective cohort study, DNA Fingerprinting, 0104 chemical sciences, Forensic science, Mental Recall, Laboratories, Law, Microsatellite Repeats
Abstract

Violence against women is a violation of human rights, crossing all cultures, classes, levels of education, earnings, ethnic and age groups. We conducted a retrospective study to review forensic records of sexual assault examinations carried out in different Italian health facilities and to correlate these findings with the results of the forensic DNA analyses. The goal was to determine which factors could have affected the obtained results, to identify the fundamental aspects to search for while examining a sexual assault victim in order to gather useful evidence to identify the offender and reconstruct the dynamics of the fact. We analysed 102 cases that occurred between 2006 and 2017, coming from ten participating laboratories. Despite a relatively limited number of cases, this study shows that the ability to ascertain the presence of male biological material in the samples collected is not a problem for forensic laboratories and seems to be influenced by other factors, such as how much time elapsed between the event and the sampling, the availability of the aggressor’s biological material on the victim and the identification of biological fluids/stains. Therefore, the need for health structures to adopt specific protocols has been highlighted. It is necessary for health structures to define specific pathways and adopt homogeneous procedures or operational protocols, and it is essential to provide adequate training for health personnel. The results of the study could be useful in drafting and revising protocols / guidelines implemented in Italian hospital. Issues related to the limited number of analyses requested by Italian Authorities are also discussed.

Published
2020

24. The molecular characterization of a depurinated trial DNA sample can be a model to understand the reliability of the results in forensic genetics

Author

Gregorio Seidita, Peter M. Schneider, Paola Pitacco, Silvia Corato, Eugenia Carnevali, Carla Vecchiotti, Pierangela Grignani, Solange Sorçaburu-Cigliero, Milena Alù, Anna Barbaro, Stefania Turrina, Andrea Verzeletti, Francesco De Stefano, Francesca Scarnicci, Laura Plizza, Stefania Lonero Baldassarra, Matteo Fabbri, Angel Carracedo, Carlo Previderè, Ranieri Domenici, Nicoletta Resta, Paolo Vatta, L. Casarino, Chiara Turchi, Lara Consoloni, Lucia Trizzino, Carlo Robino, Ugo Ricci, Vanessa Nicolin, Paolo Fattorini, Marco Moratti, Giorgio Marrubini, Luca Salvaderi, Emiliano Giardina, Susi Pelotti, Andrea Piccinini, Fattorini, Paolo, Previderè, Carlo, Sorçaburu-Cigliero, Solange, Marrubini, Giorgio, Alù, Milena, Barbaro, Anna M., Carnevali, Eugenia, Carracedo, Angel, Casarino, Lucia, Consoloni, Lara, Corato, Silvia, Domenici, Ranieri, Fabbri, Matteo, Giardina, Emiliano, Grignani, Pierangela, Baldassarra, Stefania Lonero, Moratti, Marco, Nicolin, Vanessa, Pelotti, Susi, Piccinini, Andrea, Pitacco, Paola, Plizza, Laura, Resta, Nicoletta, Ricci, Ugo, Robino, Carlo, Salvaderi, Luca, Scarnicci, Francesca, Schneider, Peter M., Seidita, Gregorio, Trizzino, Lucia, Turchi, Chiara, Turrina, Stefania, Vatta, Paolo, Vecchiotti, Carla, Verzeletti, Andrea, De Stefano, Francesco, Previderè, C, Sorçaburu Cigliero, S, Marrubini, G, Alù, M, Barbaro, Am, Carnevali, E, Carracedo, A, Casarino, L, Consoloni, L, Corato, S, Domenici, R, Fabbri, M, Giardina, E, Grignani, P, Baldassarra, Sl, Moratti, M, Pelotti, S, Piccinini, A, Pitacco, P, Plizza, L, Resta, N, Ricci, U, Robino, C, Salvaderi, L, Scarnicci, F, Schneider, Pm, Seidita, G, Trizzino, L, Turchi, C, Turrina, S, Vatta, P, Vecchiotti, C, Verzeletti, A, De Stefano, F., Fattorini, P., Previderè, C., Sorçaburu-Cigliero, S., Marrubini, G., Alù, M., Barbaro, A., Carnevali, E., Carracedo, A., Casarino, L., Consoloni, L., Corato, S., Domenici, R., Fabbri, M., Giardina, E., Grignani, P., Baldassarra, S., Moratti, M., Nicolin, V., Pelotti, S., Piccinini, A., Pitacco, P., Plizza, L., Resta, N., Ricci, U., Robino, C., Salvaderi, L., Scarnicci, F., Schneider, P., Seidita, G., Trizzino, L., Turchi, C., Turrina, S., Vatta, P., Vecchiotti, C., and Verzeletti, A.

Subjects
DNA depurination, Forensic genetics, PCR fidelity, STR typing, Biochemistry, Clinical Biochemistry, Genotyping Techniques, DNA damage, Sample (material), Reproducibility of Result, Biology, Polymerase Chain Reaction, NO, Analytical Chemistry, law.invention, forensic genetics, Settore MED/43 - Medicina Legale, law, Settore BIO/13 - Biologia Applicata, Genotype, Humans, Polymerase chain reaction, Protocol (science), Genetics, Medicine (all), Reproducibility of Results, Forensic genetic, DNA, Amplicon, DNA Fingerprinting, Settore BIO/18 - Genetica, DNA depurination, Forensic genetics, PCR fidelity, STR typing, DNA profiling, Settore MED/03 - Genetica Medica, Microsatellite Repeat, Genotyping Technique, Microsatellite Repeats, Human
Abstract

The role of DNA damage in PCR processivity/fidelity is a relevant topic in molecular investigation of aged/forensic samples. In order to reproduce one of the most common lesions occurring in postmortem tissues, a new protocol based on aqueous hydrolysis of the DNA was developed in vitro. Twenty-five forensic laboratories were then provided with 3.0 μg of a trial sample (TS) exhibiting, in mean, the loss of 1 base of 20, and a molecular weight below 300 bp. Each participating laboratory could freely choose any combination of methods, leading to the quantification and to the definition of the STR profile of the TS, through the documentation of each step of the analytical approaches selected. The results of the TS quantification by qPCR showed significant differences in the amount of DNA recorded by the participating laboratories using different commercial kits. These data show that only DNA quantification "relative" to the used kit (probe) is possible, being the "absolute" amount of DNA inversely related to the length of the target region (r(2) = 0.891). In addition, our results indicate that the absence of a shared stable and certified reference quantitative standard is also likely involved. STR profiling was carried out selecting five different commercial kits and amplifying the TS for a total number of 212 multiplex PCRs, thus representing an interesting overview of the different analytical protocols used by the participating laboratories. Nine laboratories decided to characterize the TS using a single kit, with a number of amplifications varying from 2 to 12, obtaining only partial STR profiles. Most of the participants determined partial or full profiles using a combination of two or more kits, and a number of amplifications varying from 2 to 27. The performance of each laboratory was described in terms of number of correctly characterized loci, dropped-out markers, unreliable genotypes, and incorrect results. The incidence of unreliable and incorrect genotypes was found to be higher for participants carrying out a limited number of amplifications, insufficient to define the correct genotypes from damaged DNA samples such as the TS. Finally, from a dataset containing about 4500 amplicons, the frequency of PCR artifacts (allele dropout, allele drop-in, and allelic imbalance) was calculated for each kit showing that the new chemistry of the kits is not able to overcome the concern of template-related factors. The results of this collaborative exercise emphasize the advantages of using a standardized degraded DNA sample in the definition of which analytical parameters are critical for the outcome of the STR profiles.

Published
2014

25. Capillary electrophoresis of multigene barcoding chloroplast markers for species identification of botanical trace evidence.

Author

Ferri G, Corradini B, and Alù M

Subjects
DNA, Plant isolation & purification, Databases, Genetic, Electrophoresis, Agar Gel, Genetic Markers, Polymerase Chain Reaction, Species Specificity, Botany methods, DNA Barcoding, Taxonomic methods, Electrophoresis, Capillary methods, Genes, Chloroplast genetics, Genes, Plant genetics
Abstract

The analysis of nonhuman biological evidence both animal and botanical to find out the correct species of a sample comes as a great help to crime investigators. Particularly, forensic botany may be useful in many criminal and civil cases, e.g., for linking an individual to a crime scene or physical evidence to a geographic location, or tracking marijuana distribution patterns.Despite many molecular techniques for species identification so far applied, botanical evidences are still overlooked by forensic scientists due to the lack of reproducible and efficient protocols standardized across a wide range of different organisms and among different laboratories.Recently, the term "DNA barcoding" has been coined to describe the use of a short gene sequence from a standardized region of the genome as a molecular tool for species identification. DNA barcodes have been successfully applied to a number of animal groups and introduced in forensic science with the application of the mitochondrial gene COI. Building on this success, ongoing investigations have searched for the best barcode to apply to all land plants. Here we describe the basic protocol based on amplification and sequence analysis of barcoding markers for land plants considering the latest developments of Plant DNA barcoding Project. The aim of this chapter is to provide forensic scientists an accurate and reliable tool for assigning unidentified botanical specimens to the correct species as powerful mainstay in investigations, increasing the contributions from nonhuman DNA to forensics.

Published
2012
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