322,849 research outputs found
Analisi di polimorfismi del DNA genomico e mitocondriale in tessuti fissati: confronto fra formalina e Complucad®
No full textSia in ambito di indagini di paternità che in ambito penale sempre più frequentemente il genetista forense si trova a effettuare analisi di campioni provenienti da tessuti conservati e fissati per esami istologici. Scopo del lavoro era di valutare in modo più ampio rispetto ad uno studio già condotto nel nostro laboratorio se il Complucad® (Complucad International S.A., Zaragoza, Spagna), fissativo a base alcoolica, possa esser più adatto per l’analisi genetica rispetto alla formalina. A tale fine sono stati prelevati in sede di autopsia 25 mg di tessuto cerebrale, polmonare, epatico, cardiaco e renale da 5 individui. Una parte è stata impiegata per definire il profilo genetico e il mitotipo del donatore, una parte è stata conservata in doppio con le due metodiche per 3, 7, 30 e 300 giorni. Il DNA è stato estratto con NucleoSpin® Tissue (Macherey-Nagel, Düren, Germany) e quantificato con QuantiBlot® Human DNA Quantitation Kit (Applied Biosystem, Foster City, CA, USA). Di ciascun campione è stata eseguita una PCR quadruplex dei loci LPL, F13B, FESFPS, F13A01 (Promega, Madison, WI, USA). Per i soli campioni conservati per 300 giorni sono stati analizzati ulteriori 15 loci STR ed il locus dell’Amelogenina impiegando il kit AmpFlSTR® Identifiler® (Applied Biosystem); gli stessi estratti sono stati inoltre sottoposti a sequenziamento delle regioni HV1 e HV2 del mtDNA. I risultati ottenuti dimostrano come la concentrazione di DNA sia pressoché simile per le due metodiche, ma mediante corsa elettroforetica su gel di agarosio si è osservata una cospicua degradazione del DNA dei tessuti conservati in formalina per più di 3 giorni. Unicamente per i campioni fissati con Complucad® è stato ottenuto un buon profilo STR ad ogni tempo analizzato, mentre nessun profilo genetico utilizzabile per un confronto si è avuto dai campioni fissati in formalina per più di 7 giorni. Viceversa il sequenziamento del mtDNA è risultato utile per un confronto in entrambi i casi
The impact of a bus rapid transit line on spatial accessibility and transport equity: The case of catania
No full textAccessibility is a key issue to address spatial equity when planning for sustainable mobility. Accessibility indicators can be used to measure the performance of public transport as basic strategy to cause modal shift from private transport and reduce car dependence and urban sprawl. The purpose of this paper is to verify if the realization of a set of Bus Rapid Transit (BRT) lines with high level of service can provide an equitable access of residents to workplaces, when compared with a light improvement of the commercial speed of conventional bus lines with low level of service but high spatial coverage. To this aim we use a relative accessibility measure between private and public transport, weighted by socio-economic data of population. A high spatial resolution spatial analysis is used to capture the relevance of different stop density for walking access impedance, through a GIS transport modeling software. The methodology is tested for the city of Catania (Italy)
Regional Air Transport in Europe: The Potential Role of the Civil Tiltrotor in Reducing Airside Congestion
No full textThe volume of air traffic worldwide is still in constant growth despite unfair events that sometimes occur. The demand for regional air transport is also increasing, thanks in part to the use of new vehicles purposely designed for short range flights which make this means of transport more attractive than in the past. This paper studies the possibility of using aircraft capable of vertical or short takeoff or landing (V/STOL), in particular the tiltrotor, in the regional air transport market and the impact on airport capacity that the use of this craft would have. With this in mind the advantages and disadvantages of using this vehicle are identified, as well as the changes to be made to the air transport system in order to exploit its full potential
Molecular characterization of a null allele at locus DXS8378
No full textTyping of X-chromosomal short tandem repeat (STR) loci in a deficiency paternity case revealed a single Mendelian incompatibility between a female child and her putative grandmother, consisting of an opposite homozygosity at locus DXS8378. The presence of a null allele due to a primer binding site mutation on the child''s paternally inherited X chromosome was confirmed by amplification with newly designed DXS8378 external primers. Sequencing analysis showed a point mutation (C > T transition at position 168, according to GenBank accession G08098) in the binding site of the original DXS8378 reverse primer
Integration of the AmpFlSTR Identifiler PCR Amplification Kit with SRY-specific primers for gender identification
No full textDropout of the amelogenin Y-specific allele due to an interstitial deletion of the Yp involving the amelogenin Y locus (AMELY) can cause misidentification of sex genotype with potentially serious consequences in personal identification processes and criminal investigations. Inclusion of additional sex-defining markers in forensic DNA typing kits is therefore advisable. In this study, the co-amplification of the sex-determining region Y (SRY) gene and 16 STR loci included in the AmpFlSTR Identifiler PCR Amplification Kit was evaluated. Combination of SRY and Identifiler primers did not compromise the amplification outcome and generated a 90 bp male-specific SRY fragment, showing a reproducible peak height ratio in comparison with the AMELY peak. The SRY peak was detectable in presence of amounts of template DNA as low as 125 pg, and in mixed samples with a male/female DNA ratio of 1:100
An Italian Jean Jacques Rousseau: A complex kinship case
No full textWe report the case of four women and a man, all born in an Italian village during and immediately after WWII, that recently contacted our laboratory in order to perform kinship analysis. According to their
claim, the propositi were the illegitimate offspring of a country gentleman and a peasant woman, given in adoption immediately after birth. A story that curiously reminded us of Jean Jacques Rousseau,
Thérèse Levasseur and their five children. Problems connected with DNA analysis in cases where all stated relationship are questioned, and a wide range of different pedigrees could be used as hypotheses
in LR calculations are discussed
Estrazione del DNA con particelle paramagnetiche: valutazione dell'efficacia della metodica in presenza di polveri metalliche utilizzate per l'esaltazione di tracce papillari
No full textY chromosome diversity in Piedmont
No full textY-chromosomal variability of 17 short tandem repeat (STR) and 18 single
nucleotide polymorphisms (SNP) loci was evaluated in three different population
samples from Piedmont (North West Italy): Biella (Northern Piedmont, n=80);
Trino (Central Piedmont, n=46); Cuneo (Southern Piedmont, n=90). Participating
individuals were carefully selected based on their genealogical ancestry: Biella
and Cuneo samples included adult males with at least three generations of
residence (thus predating the industrial immigration from Southern Italy that
took place in the 1950s); the Trino sample consisted of subjects belonging to an
association dating back to the Middle-Ages, which limits membership to families
who have been settled in the village since the 13th century.
AMOVA analysis of Y-SNP haplogroups indicated a variation among individuals
within and among sampling areas of 99.97 and 0.03% (p=0.378±0.013),
respectively. Trino showed reduced values of Y-STR haplotype diversity
(h=0.983), compared to Cuneo (h=0.999) and Biella (h=0.998). Absence of
significant variation among sampling areas (0.10%, p=0.350±0.004) was
confirmed by AMOVA at haplotype level, andno significant differences were
observed when pairwise genetic distances (RST) between the three samples were
calculated. On the contrary, multiple significant RST values were obtained when
Piedmont samples were compared with available population data from North
East, Central and South Italy.
The obtained results confirm that, although the Y-chromosomal landscape of
Piedmont seems fairly homogeneous, genetic heterogeneity is present in Italy at
the inter regional level
Privacy and ethical challenges of the Amelogenin sex test in forensic paternity/kinship analysis: Insights from a 13-year case history
No full textThe Amelogenin sex test included in forensic DNA typing kits has the potential to identify congenital conditions such as differences/disorders of sex development (DSD). It can also reveal mismatches between genotypic sex and gender marker in identity documents of transgender persons who obtained legal gender recognition.
In a 13-year case history of paternity/kinship tests, involving n = 962 females and n = 1001 males, two
mismatches between Amelogenin sex test (male) and gender marker (female), and three cases of chromosomal DSD (Klinefelter syndrome) were observed.
The concrete risk of observing Amelogenin anomalies, their potential causes, and the context in which they
occur (forensic, i.e. non-medical) mean that laboratory operators are called to strike a complex balance between privacy interests and individual health rights when providing preliminary information and reporting Amelogenin incidental findings. This case history argues for the need of a more responsible approach towards the Amelogenin sex test in the forensic community
- …
