Exploring the usefulness of microhaplotypes in forensic identification using massive parallel sequencing technology

BACKGROUND: Microhaplotypes or microhaps (MH) were recently introduced in the landscape of forensic genetic and appear to be useful for identification purposes, genotyping of degraded DNA, reconstruction of family relationships, ancestry prediction and DNA mixtures deconvolution. In order to make inference about a set of microhaps useful in forensic casework with low amount of degraded DNA and useful in kinship analysis, several microhaps were tested by massive parallel sequencing (MPS) assay. METHODS: We have investigated the effectiveness of 29 microhaps in a set of real forensic samples together with artificially degraded DNAs. Moreover, we explore the informativeness of 87 microhaplotypes in relationship analysis through a simulation of different kinship testing scenarios typically encountered in forensic identi\ufb01cation. RESULTS: The MPS coverage analysis showed a good performance of the designed panel. Full profiles could be obtained with 0.1 ng of input DNA even with highly degraded samples. The increment of the number of PCR cycles does not result in an improvement in genotyping results in samples with low amounts of DNA, as the increase of drop-in and drop-out events were observed at 25 number of PCR cycles. No correlation between amplicons size and occurrence of drop-outs and drop-ins was observed. Kinship simulations showed that full siblings and half siblings relationships would be readily distinguished respect unrelated condition using the 87 microhaps panel. CONCLUSIONS: Results shown that microhaps could be a powerful tool for individual identification, relationship resolution and that they are sensitive and reliable in degraded DNA typing

Identification of a Novel Gene and a Common Variant Associated with Uric Acid Nephrolithiasis in a Sardinian Genetic Isolate

Uric acid nephrolithiasis (UAN) is a common disease with an established genetic component that presents a complex mode of inheritance. While studying an ancient founder population in Talana, a village in Sardinia, we recently identified a susceptibility locus of ∼2.5 cM for UAN on 10q21-q22 in a relatively small sample that was carefully selected through genealogical information. To refine the critical region and to identify the susceptibility gene, we extended our analysis to severely affected subjects from the same village. We confirm the involvement of this region in UAN through identical-by-descent sharing and autozygosity mapping, and we refine the critical region to an interval of ∼67 kb associated with UAN by linkage-disequilibrium mapping. After inspecting the genomic sequences available in public databases, we determined that a novel gene overlaps this interval. This gene is divided into 15 exons, spanning a region of ∼300 kb and generating at least four different proteins (407, 333, 462, and 216 amino acids). Interestingly, the last isoform was completely included in the 67-kb associated interval. Computer-assisted analysis of this isoform revealed at least one membrane-spanning domain and several N- and O-glycosylation consensus sites at N-termini, suggesting that it could be an integral membrane protein. Mutational analysis shows that a coding nucleotide variant (Ala62Thr), causing a missense in exon 12, is in strong association with UAN (P=.0051). Moreover, Ala62Thr modifies predicted protein secondary structure, suggesting that it may have a role in UAN etiology. The present study underscores the value of our small, genealogically well-characterized, isolated population as a model for the identification of susceptibility genes underlying complex diseases. Indeed, using a relatively small sample of affected and unaffected subjects, we identified a candidate gene for multifactorial UAN

Dispersione dei dipinti trecenteschi marchigiani

Vengono ricostruite vicende legate alle vendite di dipinti trecenteschi presenti nel territorio marchigiano con l'analisi dei canali attraverso i quale avvenne la conoscenza di tali opere

Federico Zeri: lavori in corso

Federico Zeri \ue8 stato uno dei pi\uf9 straordinari storici dell\u2019arte e conoscitori del Novecento. All\u2019Universit\ue0 di Bologna, che gli ha conferito la laurea ad honorem il 6 febbraio 1998, ha donato la sua biblioteca d\u2019arte e la fototeca, uno archivio eccezionale dalle inesauste potenzialit\ue0. Al suo interno, lo studioso ha lasciato una serie di carpette ordinate e intestate, in cui aveva raccolto numerose foto in vista di articoli che non ebbe il tempo di portare a termine. Solo in rari casi questo materiale \ue8 corredato da brevi testi, per lo pi\uf9 incipit o abbozzi. Per rendere omaggio a Federico Zeri, la Fondazione ha deciso di ricavare da questa documentazione un libro che la renda in parte nota e che costituisca uno stimolo per il prosieguo delle ricerche. Gli argomenti selezionati riguardano la pittura italiana dal Tre al Seicento. Essi spaziano dalla pubblicazione di opere inedite di notevole interesse alle provocazioni su problemi non abbastanza conosciuti o su opere gi\ue0 note ma non capite. In alcuni casi Zeri stesso aveva gi\ue0 divulgato la sua idea, ma in sedi defilate, per cui il suo merito o non \ue8 stato abbastanza riconosciuto o non \ue8 stato tenuto in debito conto. Altri materiali erano invece ignoti fino a poco tempo fa. Il libro si compone di ventuno saggi, affidati a studiosi che conoscono a fondo i differenti argomenti selezionati. Ogni testo si propone non di restituire il pensiero di Zeri, che nella sua interezza \ue8 purtroppo precluso, ma di ricostruire per quanto possibile le sue intenzioni alla luce dei suoi studi editi e dei materiali conservati nelle cartelle di fotografie, recuperando un dialogo che valorizzi le potenzialit\ue0 dei suggerimenti contenuti nei materiali predisposti e i risultati conseguiti nel frattempo dagli studi

Spatial data methods for environmental and ecological processes

The conference is interdisciplinary (statisticians, agronomists, biologists, ecologists and more are encouraged to attend) and fosters the exchange of experiences between researchers working on spatial and spatio-temporal environmental problems

High prevalence of fragility vertebral fractures in patients hospitalised in Internal Medicine Units. Results of the POINT (Prevalence of Osteoporosis in INTernal medicine) study

Background: Osteoporotic vertebral fractures (VFs) often go unrecognised in both healthy individuals and in pathological conditions. Few data exist on VFs in patients hospitalised in Internal Medicine Units (IMUs), who often suffer from multiple concomitant chronic disorders. Aim of the study: This multicentre cross-sectional study was aimed at assessing the prevalence of VFs in an unselected population of patients referring to IMUs. Correlations between VFs and the main coexisting diseases were also investigated. Methods: Information on demographic, clinical and laboratory findings, and on the presence of known risk factors for osteoporosis was recorded. The Genant's semi-quantitative method was used to evaluate, in a central reading centre, the presence and severity of VFs in the thoracic and lumbar spine. Results: A cohort of 995 patients was evaluated. At least one VF of any grade was found in 47.5% of patients, with similar prevalence between females (48.1%) and males (46.7%). Older age, chronic obstructive pulmonary disease, and previous diagnosis of osteoporosis showed a significant association with VFs in multivariable analysis. However, 79.7% of the VFs were observed in patients without previous diagnosis of osteoporosis. Moreover, a VF of grade 2 or greater was found in 20.8% of patients. Conclusions: Fragility VFs is a very frequent finding in patients hospitalised in IMUs. Consequently, more attention should be devoted in this clinical setting to this comorbidity, which is known to be an additional factor for mortality and, when localised in the thoracic part of the spine, may negatively influence a concomitant respiratory insufficiency