1,720,979 research outputs found
Short tandem repeat analysis of host's hepatocellular carcinoma by laser microdissection confirms the validity of safety procedures in liver transplantation: a forensic case.
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Blunt head trauma in a peculiar case of partial mummification. Murder or accidental event?
No full text: The finding of a partially mummified body presenting signs of trauma requires the forensic pathologist to conduct a careful and complex examination; multidisciplinary analysis is often necessary.We report a case where the partially mummified corpse of an elderly man was found in his own home more than seven years after death. Complete post-mortem investigation revealed a cranial fracture and an acute subdural haematoma.An in-depth multidisciplinary analysis provided important information on the modality and cause of death but it was not possible to establish whether the trauma and death resulted from an accidental event or from an assault
Human CD3-CD16+ natural killer cells express the hGATA-3 T cell transcription factor and an unrearranged 2.3-kb TcR delta transcript.
No full textEnlarging the clinical spectrum associated with C9orf 72 repeat expansions: findings in an Italian cohort of patients with parkinsonian syndromes and relevance for genetic counselling.
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Analisi di polimorfismi genetici STR in tracce biologiche rinvenute su substrati adesivi: applicazione pratica in un caso di identificazione criminale
No full textThe role of genetic testing in cardiac deaths under suspicion of hypertrophic cardiomyopathy: validating a low-cost method and presenting preliminary data of an Italian retrospective study
No full textBackground. Hypertrophic cardiomyopathy (HCM) is one of the cause of sudden cardiac death and it is characterized by phenotypic and genotypic heterogeneity. The majority of HCM is caused by mutations in genes encoding components of the cardiac tissue. MYH7 (encoding beta-myosin heavy chain), TNNT2 (encoding cardiac Troponin T) and TNNI3 (encoding cardiac Troponin I) genes account for 25% to 35% of all the above mentioned mutations and they are easily investigated together by using Sanger Method of DNA sequencing. Materials and methods. The authors focus on the DNA sequence of those genes starting from different frozen tissues collected during forensic autopsies performed in a 5-year period (2011-2015) at the University of Genova, Italy. The analysis involved 9 cases of sudden cardiac death under macroscopically and histologically presenting as HCM. Discussion. The presented retrospective study allowed the authors to validate a method of DNA extraction and sequencing from different frozen samples â collected in a wide range of years â which could be applicable also in small forensic centres thanks to the limited cost. As a matter of fact, being able to reach a certain post-mortem diagnosis of HCM is a crucial step to perform a proper counselling between the deceasedâs family
Inferring relationships between pairs of individuals from locus heterozygosities
No full textBackground: The traditional exact method for inferring relationships between individuals from
genetic data is not easily applicable in all situations that may be encountered in several fields of
applied genetics. This study describes an approach that gives affordable results and is easily
applicable; it is based on the probabilities that two individuals share 0, 1 or both alleles at a locus
identical by state.
Results: We show that these probabilities (zi) depend on locus heterozygosity (H), and are
scarcely affected by variation of the distribution of allele frequencies. This allows us to obtain
empirical curves relating zi's to H for a series of common relationships, so that the likelihood ratio
of a pair of relationships between any two individuals, given their genotypes at a locus, is a function
of a single parameter, H. Application to large samples of mother-child and full-sib pairs shows that
the statistical power of this method to infer the correct relationship is not much lower than the
exact method. Analysis of a large database of STR data proves that locus heterozygosity does not
vary significantly among Caucasian populations, apart from special cases, so that the likelihood ratio
of the more common relationships between pairs of individuals may be obtained by looking at
tabulated zi values.
Conclusions: A simple method is provided, which may be used by any scientist with the help of a
calculator or a spreadsheet to compute the likelihood ratios of common alternative relationships
between pairs of individuals
The human leukocyte antigen (HLA)-C-specific "activatory" or "inhibitory" natural killer cell receptors display highly homologous extracellular domains but differ in their transmembrane and intracytoplasmic portions.
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