E Carnevali

Università degli Studi di Perugia, Perugia, Umbria, Italy

Are you E Carnevali?

Claim your profile

Publications (32)23.4 Total impact

  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: Recently introduced rapidly mutating Y-chromosomal short tandem repeat (RM Y-STR) loci, displaying a multiple-fold higher mutation rate relative to any other Y-STRs, including those conventionally used in forensic casework, have been demonstrated to improve the resolution of male lineage differentiation and to allow male relative separation usually impossible with standard Y-STRs. However, large and geographically-detailed frequency haplotype databases are required to estimate the statistical weight of RM Y-STR haplotype matches if observed in forensic casework. With this in mind, the Italian Working Group (GEFI) of the International Society for Forensic Genetics launched a collaborative exercise aimed at generating an Italian quality controlled forensic RM Y-STR haplotype database. Overall 1509 male individuals from 13 regional populations covering northern, central and southern areas of the Italian peninsula plus Sicily were collected, including both "rural" and "urban" samples classified according to population density in the sampling area. A subset of individuals was additionally genotyped for Y-STR loci included in the Yfiler and PowerPlex Y23 (PPY23) systems (75% and 62%, respectively), allowing the comparison of RM and conventional Y-STRs. Considering the whole set of 13 RM Y-STRs, 1501 unique haplotypes were observed among the 1509 sampled Italian men with a haplotype diversity of 0.999996, largely superior to Yfiler and PPY23 with 0.999914 and 0.999950, respectively. AMOVA indicated that 99.996% of the haplotype variation was within populations, confirming that genetic-geographic structure is almost undetected by RM Y-STRs. Haplotype sharing among regional Italian populations was not observed at all with the complete set of 13 RM Y-STRs. Haplotype sharing within Italian populations was very rare (0.27% non-unique haplotypes), and lower in urban (0.22%) than rural (0.29%) areas. Additionally, 422 father-son pairs were investigated, and 20.1% of them could be discriminated by the whole set of 13 RM Y-STRs, which was very close to the theoretically expected estimate of 19.5% given the mutation rates of the markers used. Results obtained from a high-coverage Italian haplotype dataset confirm on the regional scale the exceptional ability of RM Y-STRs to resolve male lineages previously observed globally, and attest the unsurpassed value of RM Y-STRs for male-relative differentiation purposes. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.
    Forensic Science International: Genetics 10/2014; · 3.86 Impact Factor
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: Long-distance truck drivers have been found to be associated with many medical problems because of their lifestyle and work environment. Many studies have revealed an increased risk in sexually transmitted infections, musculoskeletal disease, sleep disorders, hypertension, gastrointestinal disease, substance abuse and alcoholism, lung cancer, as well as human immunodeficiency virus infection. To our knowledge, there are no any articles about a fatal case of pulmonary thromboembolism. We report a case of a 45-year-old truck driver, who was found dead in his truck at a service station along the A1 motorway in Umbria, Italy. Autopsy findings revealed pulmonary thromboembolism as cause of death. Our report underlies that future actions must be addressed to provide health care access to this vulnerable, medically underserved population.
    The American journal of forensic medicine and pathology. 10/2014;
  • Source
    [Show abstract] [Hide abstract]
    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 (r2 = 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.
    Electrophoresis 08/2014; · 3.26 Impact Factor
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: Suicide by self-incineration is an uncommon method of suicide in the western world in contrast with Asian countries, where this type of suicide is more common. If there is a lack of witnesses, genetic analysis for identification is mandatory, especially when anthropologic or dental identification is barely significant.The authors report a case of self-incineration of a 55-year-old white man, which occurred near Siena, Tuscany, Italy.The recovered bones were classified according to the Crow-Glassman scale and assigned to category 5 (the highest extent of combustion according to this scale). Therefore, because of the extent of the bone damage, analyzing the residual soft tissue around the pelvic bones was the only way to reach a genetic identification.The authors report this case to emphasize that even if the highest level of burn injury to human body is reached, an accurate analysis of the findings may lead to a genetic identification. In these cases, an efficient cooperation among police, fire experts, and forensics is necessary, especially because it is the only way to determine if the modality of death was accidental, suicidal, or homicidal.
    The American journal of forensic medicine and pathology. 06/2014;
  • Source
    BIOETHICS, MEDICAL ETHICS AND HEALTH LAW, UNESCO Chair in Bioethics, Napoli; 11/2013
  • Source
  • Source
    Gabriele Margiotta, Simona Severini, Eugenia Carnevali
    New Insight on Biobank, Edited by Luciana Caenazzo, 01/2013: chapter Missing Person DNA database to counteract the illegal traffic of organs.: pages p. 119-131; Cooperativa Libraria Editrice Università di Padova., ISBN: 9788867871216
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: The 2011 collaborative exercise of the ISFG Italian Working Group GeFI was aimed at validating the five ENFSI/EDNAP miniSTR loci D1S1656, D2S441, D10S1248, D12S391 and D22S1045. The protocol required to type at least 50 multilocus profiles from locally resident individuals and two blind bloodstains in duplicate (i.e., using at least two different commercial kits), and to send the electropherograms to the Organizing Committee. Nineteen laboratories distributed across Italy participated, collecting a total of 960 samples. Full concordance was found for the five new miniSTRs as observed from the comparison of 13,150 alleles. The inspection of the electropherograms allowed the identification of a very limited number of mistypings in the miniSTR genotypes thus contributing to the establishment of an high quality Italian database of frequencies.
    Forensic Science International: Genetics 08/2012; · 3.86 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: Genetic markers represent a very important tool in forensic identification caseworks, in family relationships as well as in criminal analysis. The discrimination power of current genetic polymorphisms is so high that the inferential process can be efficiently used even in cases where direct knowledge on the genetic data of one of the terms in comparison is lacking. However in some cases despite the use of Probabilistic Expert Systems (FINEX) it is not always possible to achieve an acceptable percentage of paternity probability. Certainly one of these cases is the request to verify the relationship between two half-siblings of different gender in the absence of data from parents. In these cases it is not possible to use important tools such as polymorphisms of sexual chromosomes, so that the only possible approach is to increase the number of autosomal STRs. Therefore the authors decided to investigate 36 pairs of half-siblings with known relationships from different parts of Italy, using a high number of autosomal STRs. The aim of this study is to verify whether, increasing the number of autosomal STRs analyzed, the application of PES allows to achieve an acceptable value of paternity probability without availability of parents’ profiles.
    Forensic Science International Genetics Supplement Series 03/2012;
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: We collected published and unpublished data from 17 contributing groups participating in the GeFI (Italian Forensic Geneticists). The total number of typed subjects was 1114 males and 777 females, coming from 11 regions of North, Centre, and South Italy, and Sardinia. Individual's multilocus genotypes included 4–12 loci. The total number of typed markers was 29, scattered along the X-chromosome genetic map in several clusters; the most used marker was DXS7423 (2429 gene copies); the mean number of subjects typed per marker was 336 for males and 208 for females. Data are available online.
    Forensic Science International Genetics Supplement Series 12/2011;
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: The X-chromosomal markers are increasingly used in forensic genetics, particularly for relationship testing. Their use has become a valuable tool in complex cases of kinship but rather in criminal caseworks is still quite rare. In this paper the authors present a case of sexual assault in which the use of X chromosome polymorphisms has been crucial. The victim was a young immigrant woman found dead in her home. The main suspect was her husband. However, the couple lived in a community in which the particular cultural context suggested the involvement of the other males of the husband family. The suspect lived together with his brother, his father and his uncle. Generally, a useful tool to solve cases of sexual violence is undoubtedly the use of Y chromosome, but in this case this device could not discriminate between the four males involved. An additional factor has further complicated the situation: the most important biological evidence (typed with AmpFlSTR Identifiler and AmpFlSTR NGM) showed a mixed profile in which was very difficult to discriminate the suspects profiles. To solve the casework, the authors typed the victim, the suspects and the biological traces with 6 X-STRs in an homemade esaplex. The results showed the presence of victim and her husband profiles in the biological trace excluding his brother, father and uncle's profiles.
    Forensic Science International Genetics Supplement Series 01/2011;
  • Source
    Forensic Science International Genetics Supplement Series 01/2011;
  • [Show abstract] [Hide abstract]
    ABSTRACT: In recent years, European working groups (ENFSI-EDNAP) have strongly encouraged the development of new amplification kits that allow to obtain DNA profiles even on difficult samples (degraded samples, presence of inhibitory substances, LCN, mixtures, etc.). To enable the amplification of difficult biological samples the new loci were designed to achieve greater resistance to inhibitors and most robust and uniform amplification. With the aim of evaluating the performance of latest generation kits in real forensic caseworks the authors retested some bone samples previously analyzed in their laboratory over the past five years with the old commercial kits. The authors compared the performance of AmpFℓSTR® NGM™ PCR Amplification kit (Applied Biosystems) with PowerPlex® ESX 17 systems (Promega). The twelve analyzed samples came from eight exhumed corpses and four bodies found outdoor in the advanced stage of putrefaction. For the genetic investigation the authors used a piece of bone taken from the femur. In conclusion, the authors can claim that the latest generation kits have proved to be decisive in all cases, including those where the previous use of traditional kits did not produce reliable and uniquely interpretable results.
    Forensic Science International Genetics Supplement Series 01/2011;
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: MiniSTR loci have demonstrated to be an effective tool to recover genetic information from degraded sample due to the small PCR products. The use of these non-CODIS miniSTRs can increase the probability that a degraded sample can be typed and in addition these systems can be used in complex paternity cases where more markers are needed.Six autosomal loci (D10S1248, D14S1434, D22S1045, D4S2364, D2S441, D1S1677) were investigated in 200 individuals from Italian regions, Umbria and Sardinia.Statistical analysis and comparison between two groups were performed.
    Forensic Science International Genetics Supplement Series 12/2009; 2(1):367-368.
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: Mitochondrial DNA (mtDNA) U/K and J/T are sister haplogroups within the superhaplogroup R. They are both common in Europe, with a combined overall frequency similar to the one reported for H, the most common European haplogroup (40-50%). In this study, we selected 159 Italian subjects, already ascribed to U/K and J/T by RFLP typing, and assigned each mtDNA to specific clades/subclades by investigating at least one diagnostic coding region SNP. For each sister haplogroup, one multiplex PCR and one SNaPshot minisequencing reaction were set up targeting 16 U/K and 7 J/T coding region SNPs. Each mtDNA sample was clearly assigned to a specific subclade, which could be further subdivided into several minor sub-branches according to peculiar HVS I/II motifs. Such a molecular dissection of haplogroups U/K and J/T could be extremely useful to reduce the overall analysis time and labor intensive sequencing procedures in high volume forensic casework, for example when it is important to rapidly exclude samples in order to restrict the number of suspects.
    Forensic Science International: Genetics 12/2009; 4(1):21-5. · 3.86 Impact Factor
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: A collaborative study was carried out by the Italian ISFG Working Group in order to improve the data on Y-STR mutations at the loci mostly used in forensic analysis, following recommendations of the ISFG DNA Commission. The knowledge on Y-STR mutation rates needs to be considered in the paternity probabilities, especially in deficiency cases of disputed paternity involving male offspring where the alleged father is not available for DNA analysis. Furthermore, the mutation rate represents a precious tool to estimate the local and temporal origin of a given Y-SNP based haplogroup. The sample consisted of 433 father/son pairs from paternity cases in 15 different laboratories from Italy. The biological relationship of all father/son pairs was previously confirmed by using autosomal microsatellites. The laboratories used AmpFlSTR YFiler kit (AB) and PowerPlex Y System (Promega); DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, GATA C4, and GATA H4.1 data were collected. The participants were also asked to provide the age of the biological father and, if possible, male descendants beyond the first generation. 20 mutations were observed among all of the allele transfers in the sample (19 single step and 1 double step), and mutations in the same father/son pair were found in three cases. Locus-specific mutation rates were calculated. Forensic implication of the average age of the father as well as the number of locus deletions and amplifications were discussed.
    23rd International ISFG Congress; 09/2009
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: A case of a woman killed in Perugia is reported. The woman was beaten to death and the body showed evidence of bites, kicks and punches. The request of the Court was to verify the presence of bites and if they belonged to humans. Morphological examination and genetic analysis with human Y-specific markers were performed in order to verify the origin of the bites. The DNA profile from the surrounded area of the traces was compared with the profile of the victim's husband (the suspect).The results showed a match between the profile of the suspect and that of the traces for all loci examined. Due to the fact that also other relatives of the husband's male lineage lived in the same house, it was not possible to identify the man who really contributed to the traces. Therefore, the analysis was implemented with autosomal STR markers, which showed a mixed genetic profile. In order to verify the number and the identity of the contributors, statistical analysis based upon peak area information was performed with Probabilistic Expert Systems.
    Forensic Science International Genetics Supplement Series 09/2009;
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: Eight X-chromosome STR were investigated in two groups of individuals from two Italian regions, Umbria and Sardinia. These two regions have a very different history. Umbria, situated in the centre of Italy and without defensive natural barriers, in the course of the centuries has been object of many invasions and appropriations by foreign people. On the contrary, Sardinia, an island in the centre of the Mediterranean sea, has endured a minor number of foreign invasions. The ChrX markers were amplified in a pentaplex (DXS6789, DXS7423, DXS6807, DXS101, DXS8377) and a triplex (DXS10074, DXS10075, DXS10079) that represents a haplotype. The DNA was extracted from 200 blood samples using the QIAmp DNA Minikit (Qiagen TM). Amplification products were detected on an ABI PRISM 310 Genetic Analyzer (Applied Biosystems), using the same dye labels, run conditions, standard (GeneScan 500 Liz) and matrix file of AmpFlSTRIdentifiler. Statistical analyses for all the loci and intergroup comparisons between the two regional groups of individuals were performed.
    Forensic Science International Genetics Supplement Series 01/2009;
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: Forensic identification with genetic markers is currently experiencing various scenarios of inference, spanning from direct to indirect comparisons in matter of family relationship and criminal analysis. The discrimination power of current genetic polymorphisms is such that the inferential process underlying this field of human identification can efficiently be deployed even in cases where there is a lack of direct knowledge on the genetic asset on one of the terms in comparison. The most promising of these software facilities are the probabilistic expert systems (PES). To verify the power of these systems to confirm relationships among individuals in defective cases, we analyzed four different groups of complex families with known relationships. To test the goodness of the software employed (FINEX), we created different pedigrees by deleting one or more individuals from each family and calculating the different probability values obtained.
    Forensic Science International Genetics Supplement Series 01/2009;
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: In the course of an investigation to identify a burns-related death victim a particular case of paternity test was introduced. In a locality near Spoleto (Umbria), an oil mill burned down causing the death of four men. One of them was identified comparing his genetic profile with those of his relatives: a daughter and a brother. The wife was not available for the analysis. Data obtained with Identifiler showed a genetic compatibility between the man and his daughter. By chance we observed that a genetic compatibility was also evident between the daughter and the other man analyzed, the uncle. To clarify this situation we implemented the panel of markers analyzed, adding PowerPlex 16, 6 miniSTRs (NC01 and NC02) and 5 STRs of X chromosome.
    Forensic Science International Genetics Supplement Series 02/2008;