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Abstract: Allelic frequencies and statistical parameters of forensic interest for the 15 STRs loci of the PowerPlex® 16 System were estimated in a population sample of 292 unrelated individuals from non-EU countries: 62 from Pakistan, 90 from Albania and 140 from Maghreb (Morocco, Tunisia and Egypt). [Copyright &y& Elsevier]

Abstract: Within an Italian collaborative exercise on the extended haplotype of the Y-chromosome, 1288 subjects were typed by the AmpFlSTR YFiler Amplification Kit (AB Applied Biosystems) and other 526 were typed by the PowerPlex Y® System (Promega). The sampling scheme included either a “regional” or a “local” recruitment, the first referring to individuals born in the region of the participating lab, the second referring to individuals coming from small villages. Total sample sizes were N =954 and 860, respectively. A significant decrease of haplotype diversity was found in the local samples. The results may be of interest in forensic applications of the Y-chromosome. [Copyright &y& Elsevier]

Abstract: To establish a database for DXS8378, HPRTB, DXS7423, DXS7132, DXS10134, DXS10074, DXS10101, DXS10135 loci in an Italian population sample from Brescia (Northern Italy) and from the Sardinia island, 131 unrelated individuals were typed. DNA was amplified in a multiplex reaction with subsequent automatic detection using capillary electrophoresis. The obtained data give a contribution to the definition of Italian population STR allele frequencies for the eight analysed loci. [Copyright &y& Elsevier]

Abstract: Forensic laboratories may be asked to provide genetic evidence that two persons are related or not, when no other relatives are available for study. Sibship analysis of autosome polymorphisms are more complicated since there are no obligatory alleles between siblings that make it possible to exclude a biological relationship with absolute certainty. In this preliminary study, seventy full-sib pairs were genotyped using the AmpFLSTR Identifiler PCR Amplification kit. All subjects belonged to families that included mother, two or three children, and an alleged father, in which neither the mother nor the alleged father were excluded as biological parents, and no mutational event was observed. In addition, the Y chromosome was investigated with AmpFLSTR Yfiler PCR Amplification kit to provide further support for the relationship. The probability that each pair was composed of full sibs rather than non-relatives was calculated by standard formulas, and was verified using different published software. The distribution of these probability values was used to ascertain the statistical power of the Identifiler kit to resolve sibship relationships to forensic purposes. [Copyright &y& Elsevier]

Abstract: In a newborn who died 5 days after birth, a rare mutation for the cystic fibrosis gene was found, allowing the clinicians to suspect that the child was a product of an incest. A forensic genetic analysis on the newborn, on the girl and her parents was very suggestive for the incest hypothesis. The girl''s father was suspected, but an exclusion at two loci was found. Using the software for genetic analysis “Familias”, considering different hypothesis, the most probable situation was the existence of a girl''s brother. This hypothesis allowed the Prosecutor to discover the existence of a girl''s brother, who admitted the crime later. [Copyright &y& Elsevier]

Abstract: To establish a database for SE33 locus for an Italian population sample from Brescia (northern Italy), 90 unrelated individuals were typed. DNA samples were amplified using a commercial kit with subsequent automatic detection using capillary electrophoresis. The obtained data are very useful in our practice and they give a contribution to the definition of Italian population STRs allelic and genotypic frequencies for the locus analysed. [Copyright &y& Elsevier]

Abstract: To establish a database for DXS8378, DXS7132, HPRTB, DXS7423 loci in an Italian population sample from Brescia (northern Italy), 90 unrelated individuals were typed. DNA was amplified in a multiplex reaction with subsequent automatic detection using capillary electrophoresis. The obtained data are very useful in our practice and they give a contribution to the definition of Italian population STR allelic, genotypic and haplotypic frequencies for the four analysed loci. [Copyright &y& Elsevier]

Two different automated procedures (capillary electrophoresis and infrared automated sequencer) for STR analysis on DNA obtained from highly degraded teeth were compared. Even with these two automatic protocols, negative or not much informative results were obtained. Our results confirm that in extreme conditions, it is necessary to perform more sensitive analysis (i.e. SNPs, mt-DNA) to obtain informative genetic profiles. [Copyright &y& Elsevier]

Some human carbonized remains were found in a wood near a lake. Investigations and a macroscopic analysis of the remains led suspicions to a killed and burned 20-year-old man. To identify with certitude the remains, nuclear DNA from the remains and from the alleged mother were analysed. Only at vWA locus an exclusion was found. Because of the delicacy of the case (a murder) and since only the alleged mother''s DNA was available, a mt-DNA analysis was performed. It was found a good correlation in both HV1 and HV2 regions between the DNA from the remains and the mother''s. [Copyright &y& Elsevier]

To establish databases for D16S539, D2S1338 and D19S433 loci for an Italian population sample from Brescia (Northern Italy), 77 unrelated persons were typed. DNA samples were amplified in a multiplex reaction with subsequent automatic detection using capillary electrophoresis. The obtained data are very useful in our practice and they give a contribution to the definition of Italian population short tandem repeat (STR) allelic and genotypic frequencies for the three analysed. [Copyright &y& Elsevier]

Abstract: DNA typing techniques is one of the most advanced tools for human identification. During the last 10 years, a great number of methods for DNA extraction and analysis have been introduced to forensic genetic, with considerable success but also with considerable controversy. The success and validation of a criminal investigation are very closely related to the process used for obtaining and preserving biological evidence. We report the strategy that we employed to analyze evidences belonging to a homicide happened in Brescia (Italy) in 1992, not resolved at that time, with the forensic genetic analysis. After 16 years the analysis were conducted on DNA samples extracted with Chelex maintained at −80°C, bloodstain, and biological specimens of perpetrators. Standard autosomal and Y-chromosome STR analysis identified the persons involved and victim''s profiles. This case is of interest as a demonstration of a more successful application of DNA typing in well conserved DNA samples than in bloodstains kept in the Court Office. [Copyright &y& Elsevier]

Abstract: Physical contact between two or more persons can give rise to the transfer of DNA from one person to another and biological material can accumulate under the fingernail hyponichium. The purpose of this study is to value the normal levels of foreign DNA profiles under the fingernail of individuals deceased of a non-violent death, in order to define the usefulness of this approach in the recovery of a suspect''s DNA profile. No foreign DNA was found in the majority of the cases. [Copyright &y& Elsevier]

Abstract: A cap was found at a crime scene. The genetic analysis allowed to identify a 15 loci profile that did not match with a suspect, although showing a good correlation. The Y chromosome STR profile was different and so was the 4 X chromosome loci profile. Interesting although, the hypothesis of a parental relation between the suspect and the evidence was statistically inconclusive. [Copyright &y& Elsevier]

Abstract: A sample of 1070 individuals was collected by 12 collaborating forensic laboratories from Central and Northern Italy, and typed by the so-called “NC01” triplex, including the three loci D10S1248, D14S1434, and D22S1045. Heterozygosities were 0.771, 0.717, and 0.720, respectively. [Copyright &y& Elsevier]

Abstract: To establish a database for the three MiniNC01 loci D10S1248, D14S1434, D22S1045 in a population sample from North-eastern Italy, 102 unrelated individuals were typed. DNA was amplified in a multiplex reaction with subsequent automatic detection using capillary electrophoresis. The obtained data give a contribution to the definition of Italian population miniSTRs allele frequencies for the three analysed loci. These three MiniSTRs were tested on 21 neoplastic tissues and the obtained genotypes were compared to those obtained from normal tissue. Only 3 cases (14.28%) gave a different genotype suggesting a better performance of these markers than traditional STRs. [Copyright &y& Elsevier]

Abstract: In case of deficient paternity or maternity investigations with short tandem repeat (STR) analysis, sometimes common STRs cannot provide good results. Thus, it is recommended that additional STRs are used to complement conventional analysis for more reliable forensic information. We analyzed variation of 22 STRs contained in the new PowerPlex® Fusion kit (Promega) in 52 unrelated individuals, living in Northern Italy, involved in paternity testing casework, to contribute to create an Italian database. [Copyright &y& Elsevier]

Abstract: ENFSI recently introduced in forensic DNA typing five new STRs loci (D10S1248, D22S1045, D2S441, D1S1656, D12S391) not included in CODIS. It is necessary to obtain data regarding allele frequencies for these five loci in different populations, allowing their use in forensic cases. In this study two groups of individuals of two of the main ethnic groups living in Northern Italy, the Albanians and the Indo-Pakistanis, were typed using the commercial kit AmpFlSTR® NGM; allelic frequencies and forensic parameters were calculated. [Copyright &y& Elsevier]

Abstract: Deficient paternity cases, where the DNA profile of the alleged father is not available, are not unusual in forensic practice. Considerably larger sets of genetic markers have to be examined than in standard casework and the statistical evaluation of the DNA evidence is more difficult. Such a case can also be burdened with danger of false inclusion. The reported case of disputed paternity has recently come at our attention. The claimant pretended to be the natural daughter of a long-time deceased man, who had three legitimate children, two sons and one daughter. Initially, genetic profiles were obtained from three subjects: the claimant, the alleged father's daughter and one alleged father's son. The results for a 20 STRs loci profile revealed only one exclusion between the claimant and the siblings. Also the analysis of X chromosome polymorphisms revealed one exclusion. Only by typing for 20 STRs loci also the other son the combined results revealed five exclusions. In cases when the request is to verify the relationship between two half-siblings of different gender in the absence of data from parents, when sexual chromosomes polymorphisms are not useful, the only possible approach is to increase the number of analyzed autosomal STRs and include in the analysis the most number of parents as possible. [Copyright &y& Elsevier]

Abstract: Italian law No. 85/2009 ratifies the Prüm Treaty which is an agreement of seven EU Member States regarding cooperation in justice and home affairs and establishing the highest possible standard of cooperation in exchange of information, particularly in combating terrorism, cross-border crime and illegal migration. This law regulates the institution of the Italian National Forensic DNA Database and introduces modification articles of the Code of Penal Procedure relative to the technical assessments that can affect personal freedom involved in biological sampling and collection of DNA profiles. Even though DNA databases are a great value for investigation and society, it may be troublesome to solve the balance between public interest in crime control and individual rights such as personal freedom, dignity and privacy. The purpose is to consider the distinctive features of the genetic data. Particularly, their immutability, predictability on the future health conditions and sharing within the so called “biological group” makes really difficult to find a proper management of the genetic data. The crucial issue to be taken into consideration is the ethical one, which concerns the processing of this sensitive private information. Our interest is to compare the solutions provided by international standards and by sentences, both European and Italian, with articles 12 and 13 of the law No. 85, that regulate security measures and storage of DNA profiles and biological samples. The critical analysis of the Italian regulation testifies that a fair balance between individual rights and social security is extremely hard to fulfill. [Copyright &y& Elsevier]

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. [Copyright &y& Elsevier]

Abstract: STR analysis is currently used in paternity testing. We report a case of an apparent paternal inconsistency due to low discrimination power of heterozygosis status at D12S391 locus. [Copyright &y& Elsevier]

Abstract: Although performing oral swabs is a very simple, fast and cheap procedure, it should always be kept in mind the importance of this step in DNA typing. We report a case of voluntary contamination of oral swabs to alter a paternity testing. Therefore, carefully evaluate the oral cavity before collecting the swab, personally collect the sample, perform at least two oral swabs at two different sites of the oral cavity. [Copyright &y& Elsevier]

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. [Copyright &y& Elsevier]

Abstract: Five autosomal STR loci (D10S1248, D22S1045, D2S441, D1S1656 and D12S391), unlinked to the core STR loci (non-CODIS loci), were typed in a population sample of 210 unrelated individuals from Brescia (Northern Italy). Allelic frequencies and statistical parameters of forensic interest were estimated. A comparison between our population data and others from Caucasian and Asian populations was performed. [Copyright &y& Elsevier]