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The X-chromosome (X-Chr) markers are more efficient than autosomes in special cases of kinship analysis. Here, we show an unusual case, where two half-sisters (AR, AP), daughters of the same woman (AL), wanted to know whether they were also half-sisters of two other women (MM, MS) and a man (CR). These latter subjects were known to be children of different fathers. DNA was also available from AR’s and AP’s maternal aunt AA. Using the undisputed relationships (AA being aunt of the half-sisters AR and AP), the X-haplotypes of AR’s and AP’s maternal grandparents could be inferred. Grandmother’s X-haplotypes were also shared by MM, MS and CR, thus supporting hypothesis 1. A Mendelian inconsistency was observed at locus DXS10134, though it could not be distinguished between mutation and intra cluster recombination. Extra cluster meiotic recombination events were also observed, as some other interesting outcomes useful for forensic genetics discussion. According to ISFG guidelines [ 1 , 2 ] the biostatistical evaluation in kinship analysis was based on a likelihood ratio approach, using FamiLinkX and Familias programs respectively on the X-chromosome and autosomes analysis. [ [3] , [4] , [5] ]

On October 3rd, 2013 a boat carrying more than 500 migrants coming mostly from the Horn of Africa (Eritrea, Somalia, Ethiopia) sank near Lampedusa, a small Italian Island in the middle of the Mediterranean Sea. The recovered bodies were examined by a forensic team, and post mortem data (anthropological and odontological records, and DNA) were collected for identification. Genetic profiles based on 16 autosomal STRs were acquired from both victims and putative relatives recruited following an international call. The final genetic database included 363 victims and 43 reference persons from 36 independent families recruited until mid-2017, who were missing 35 first-degree and 6 second-degree relatives. A pairwise blind search approach was used to identify familial relationships within the victims and between victims and putative relatives. Two statistics were calculated, the Identity by State (IBS) and the Identity by Descent (IBD), the latter by using the DVI module of the FAMILIAS3 software to compute LRs and posterior probabilities. The putative identifications were confirmed in pedigree analysis using the information provided by the relatives. In selected cases, additional autosomal and lineage (Y-chromosome and mtDNA) markers were typed. Some critical points were highlighted: the lack for accurate allele and haplotype frequencies in African populations, especially for the lineage markers, and the need for a shared approach to the biostatistical interpretation of the results in DVI. In the end, 29 first-degree (parent-child and full sibs) out of 35 missing (83%), and 3 out of 6 of second-degree relatives (50%) showed a high statistical confidence for a positive identification. This study represents the first attempt to systematically deal with the genetic identification of African migrants who died in the Mediterranean Sea. The methodological and statistical approach used in this study was proved to be reliable and appropriate for future genetic identifications in other similar mass disasters.

Type 2 Von Willebrand disease (VWD) is a severe coagulopathy occurring in the Deutsch-Drahthaar dog (or German Wirehaired Pointer, DD/GWP). Recently, a causative recessive mutation has been identified, and a DNA test is now available for individual screening. The genotype distribution (clear, carrier, and affected dogs) was investigated in 1855 DD/GWP dogs using data collected by the DD DNA-VWD-Databank in several European countries. 1704 (91.8%) DD/GWP dogs were genotypically clear of the VWD mutation, 144 (7.8%) were carriers, and seven (0.4%) were affected. The estimated disease allele frequency was highest in Germany and Sweden (almost 5%), and about 1% in Denmark, Finland and Norway. The Hardy-Weinberg equilibrium was tested in the German sample, and showed no evidence of deviation.

Background PancPRO is a computer program that estimates the risk of pancreatic cancer for asymptomatic individuals based on a genetic model of susceptibility and the familial incidence of cancer. Aim To evaluate the distribution of the familial risk in a series of incident cases of pancreatic adenocarcinoma. Materials and methods The lifetime risk of pancreatic cancer was calculated by PancPro for a hypothetical 40-year-old son of 570 consecutive probands with pancreatic cancer. Results The 570 risk values were included between 1% and 13%. The distribution was bimodal, with the antimode located at risk = 7.5%. Considering a 10-fold risk over the general population as a threshold for including a subject in a surveillance program, 19 families (3.3%) would be selected, totalling 92 first-degree relatives with age >40 years. Conclusions PancPro is a valid instrument to rank families based on risk of pancreatic cancer.

Hypnotizability is associated with a few physiological characteristics also in the normal awake state. Differences in flow-mediated dilation (FMD) have been observed in subjects with high (Highs) or low (Lows) hypnotizability during nociceptive stimulation. FMD is largely due to the nitric oxide (NO) produced by vascular endothelium through the activity of NO synthase (eNOS). Endothelial NOS is encoded by the NOS3 locus. Aim of this pilot study was to investigate the association between genetic polymorphisms of NOS3 involved in NO blood levels and hypnotizability. Nine single nucleotide polymorphisms (SNPs) of the NOS3 gene were analyzed in the DNA of 24 Highs, 22 Lows, and 61 newborns. Two SNPs, rs1800783 (-1474 T/A) and rs2070744 (-786 T/C), located in the upstream and promoter region of the gene, respectively, showed significant differences between Highs and Lows in allele frequency. Haplotype analysis showed that the newborns were in linkage equilibrium for these SNPs, whereas both Highs and Lows showed linkage disequilibrium. The A-C haplotype (associated with lower NO availability in the general population) was more frequent in Highs, and the T-T haplotype was more frequent in Lows. Thus, the lower FMD reduction observed in Highs during nociceptive stimulation, which is indicative of higher NO availability, should be due to greater efficacy of shear stress-related transcriptional factors and/or to lower effects of NOS inhibitory controls. A consequent theoretical proposal concerns the possible role of NO in the brain vessels where, in stimulation conditions, NO diffusion to the extracellular compartment might be involved in hypnotic responding.

Background/Aims: Pancreatic cancer is a leading cause of cancer-related death; the most consistently identified risk factors are smoking and family history. Our aims were to examine

Many X-chromosome short tandem repeats (X-STRs) have been validated for forensic use even if further studies are needed on allele frequencies and mutation rates to evaluate the extent of polymorphism in different populations and to establish reference databases useful for forensic applications and for anthropological studies. A single multiplex reaction of seven X-STRs, which includes the DXS6789, HUMARA, DXS10011, DXS7423, HPRTB, DXS6807, DXS101 loci, is presented and their allele frequency distribution in a large population sample including 556 subjects (268 females and 288 males) analysed by five forensic laboratories of Central and Northern Italy is shown. Our results demonstrate the feasibility of a single amplification/detection reaction involving seven markers of the X chromosome, which can be fruitfully used in complex kinship analysis.

In the last years, the migration flow across the Mediterranean Sea increased rapidly. More than 20,000 persons, included young men, women and children, died trying to reach the European coasts, 60% of which remained with no identity. In this scenario, forensic genetics can give a support to the positive identification of the victims. To this aim, the DNA extracted from the victims is analysed and compared to reference samples supplied by relatives, in order to find out familiar relationships. In collaboration with LABANOF, University of Milan, our laboratory is trying to set up a genetic and statistic approach suitable for victim identification of the migrants died during the shipwreck occurred near the Lampedusa island, in October 3rd, 2013. The genetic profiles of the 363 victims, collected by the Forensic Genetics Lab of the Scientific Police Service (Palermo, Italy), were initially compared among them and subsequently between victims and subsequently with the reference samples, using the software Familias3, setting up the DVI interface. The statistical approach identified four familiar groups among the victims, generally composed by a parent with two or more children, and five parent-child relationships. In addition, 20 matches were detected between the subjects seeking a relative and 17 victims, with a positive statistical support. Some critical points emerged during the analyses among which the most important were the number of relatives and genetic markers needed to reach a statistical support to identification, the lack of genetic information about the populations to which the victims belonged and the option to use lineage markers such as Y-chromosome and mtDNA polymorphisms. In conclusion, these results support the reliability of the approach and highlight the importance to collaborate with other forensic experts in order to achieve positive identifications of the bodies.

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.

This study reports the selection of 22 autosomal SNPs and the setting of PCR and minisequencing multiplexes suitable for forensic purposes.

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.

The aim of this study was to set up a multiplex PCR of eight autosomal single nucleotide polymorphisms (SNPs) suitable for forensic purposes.

This work presents preliminary results concerning a collaborative exercise on mitochondrial DNA by laboratories of the (GeFI group).

The hypervariable regions HVI and HVII of mitochondrial DNA (mtDNA) were sequenced in 50 unrelated individuals living in Veneto. A total of 48 different mtDNA haplotypes for HVI region (404 bp) and 49 for HVII region (313 bp) were observed. Nucleotide diversity was 0.0116 and 0.0097, respectively.

Haplotype data of 1176 Italian males from 10 regions were obtained as a part of a collaborative validation exercise. Individual data are available at http://www.gefi-forensicDNA.it .

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.