Search results for "genetic analysi"

Phylogenetic analysis of the Sicilian Hieracium taxa (Asteraceae) using "DNA barcoding": preliminary data

2014

Phylogenetic analysis in the clinical risk management of an outbreak of hepatitis C virus infection among transfused thalassaemia patients in Italy

2021

Background: Occurrence of hepatitis C virus (HCV) infection is reduced by effective risk management procedures, but patient-to-patient transmission continues to be reported in healthcare settings. Aim: To report the use of phylogenetic analysis in the clinical risk management of an HCV outbreak among 128 thalassaemia outpatients followed at a thalassaemia centre of an Italian hospital. Methods: Epidemiological investigation and root-cause analysis were performed. All patients with acute hepatitis and known chronic infection were tested for HCV RNA, HCV genotyping, and NS3, NS5A, and NS5B HCV genomic region sequencing. To identify transmission clusters, phylogenetic trees were built for each…

One is not enough: On the effects of reference genome for the mapping and subsequent analyses of short-reads.

2020

Mapping of high-throughput sequencing (HTS) reads to a single arbitrary reference genome is a frequently used approach in microbial genomics. However, the choice of a reference may represent a source of errors that may affect subsequent analyses such as the detection of single nucleotide polymorphisms (SNPs) and phylogenetic inference. In this work, we evaluated the effect of reference choice on short-read sequence data from five clinically and epidemiologically relevant bacteria (Klebsiella pneumoniae, Legionella pneumophila, Neisseria gonorrhoeae, Pseudomonas aeruginosa and Serratia marcescens). Publicly available whole-genome assemblies encompassing the genomic diversity of these species…

A novel S379A TARDBP mutation associated to late-onset sporadic ALS

2019

Since 2008, several groups have reported a lot of dominant mutations in TARDBP gene as a primary cause of Amyotrophic lateral sclerosis (ALS). Mutations in TARDBP gene are responsible for 4–5% of familial ALS (fALS) and nearly 1% of sporadic ALS (sALS). To date, over 50 dominant mutations were found in TDP-43 in both familial and sporadic ALS patients, most of which were missense mutations in the C-terminal glycine-rich region. Herein, we describe the clinical and genetic analysis of an Italian non-familial ALS patient with a late onset and a rapid disease progression, which led to the discovery of a novel TARDBP mutation. After neurological evaluation, molecular investigation highlighted t…

A novel mutation (Thr116IIe) in the presenilin 1 gene in a patient with early-onset Alzheimer's disease

2004

We report a novel presenilin 1 (PSN1) mutation (Thr116Ile) in a woman with early onset Alzheimer's disease (AD). This mutation was not found in 100 healthy controls, indicating that this is not a common polymorphism. The patient presented with forgetfulness at age 45, followed over the next 3 years by a worsening of the memory loss and frequent episodes of confusion and spatial disorientation. Neuroimaging studies were consistent with AD. The analysis of the family's pedigree showed that the proband was apparently the only member affected. Because the early death of several close relatives (i.e. the mother and the grandmother) and the demonstration that the father is not a mutation carrier,…

Molecular analysis suggests that recent Citrus tristeza virus outbreaks in Italy were originated by at least two independent introductions

2005

Citrus tristeza virus (CTV) is the causal agent of the most important virus disease of citrus. Numerous CTV isolates differing in biological and molecular characteristics have been reported worldwide. Recently, CTV was detected in Italy in several citrus crops from three separate areas: (1) Cassibile, province of Syracuse; (2) Massafra, province of Taranto; and (3) Belpasso, province of Catania. CTV isolates from Massafra and Cassibile were mild, whereas isolates from Belpasso induced severe symptoms. To study the genetic variation of CTV populations of these areas, 150 samples per area were examined by single strand conformation polymorphism (SSCP) and nucleotide sequence analysis of CTV g…

PPHD: une plateforme pour le phenotypage a haut debit

2012

International audience; The methodologies for genotyping and high throughput automated platforms for the production of type-omics (genomics, transcriptomics, protected omics ...) have greatly increased over the last few years and are now available to analyze the expression of genes of plants in several environmental conditions. However, a break of conceptual and technical services, non-destructive characterization and dynamic phenotypes, at the organ or plarite, has hundreds of related genotypes (Broadband) remains the limiting factor for the discovery of new characters or new varieties. This systematic exploration of diversity. Genetics within a species or between species requires platform…

2001

Duration from sowing to flowering is the most important trait influencing adaptation in pigeon pea (Cajanus cajan), but the inheritance of this trait has not been elucidated clearly. Crosses were made between two early (60 to 70d) and one late (160 to 170d) flowering pigeonpea genotype and F1, F2 and BC1 populations produced. These populations, comprising 60 to 100 parents, 30 F1, 400F2 and 40 to 50 BC1 plants, were grown under natural (mean13.4 hd-1) and artificially extended (to 15 hd-1) daylength and duration from sowing to first flowering recorded. Genetic analysis of the segregation ratios, supported by Chi-square tests, indicated that the duration from sowing to flowering in each of t…

Response to comments by Cardinale et al. on “Local cod (Gadus morhua) revealed by egg surveys and population genetic analysis after longstanding depl…

2019

Fasciolasis humana y animal en África, con enfásis en Egipto

2013

Fasciolid flukes cause fascioliasis, an helminthic disease of humans and livestock and which is transmitted by specific freshwater snails of the family Lymnaeidae, within a frame of transmission and epidemiology pronouncedly influenced by climate factors and environmental conditions. In Africa, fascioliasis is caused by the two species Fasciola hepatica and F. gigantica, giving rise to important economic losses in husbandry throughout. Research on human infection has focused on northern Maghreb countries and Egypt, whereas studies on the wide region southward from the Sahara have only been sporadic. The present Thesis includes the genetic characterisation of the lymnaeid species found in se…