Search results for " Microsatellite"

Increased Activity of Coagulation Factor XII (Hageman Factor) Causes Hereditary Angioedema Type III

2006

International audience; Hereditary angioedema (HAE) is characterized clinically by recurrent acute skin swelling, abdominal pain, and potentially life-threatening laryngeal edema. Three forms of HAE have been described. The classic forms, HAE types I and II, occur as a consequence of mutations in the C1-inhibitor gene. In contrast to HAE types I and II, HAE type III has been observed exclusively in women, where it appears to be correlated with conditions of high estrogen levels--for example, pregnancy or the use of oral contraceptives. A recent report proposed two missense mutations (c.1032C-->A and c.1032C-->G) in F12, the gene encoding human coagulation factor XII (FXII, or Hageman factor…

Patterns of male-specific inter-population divergence in Europe, West Asia and North Africa

2000

summary We typed 1801 males from 55 locations for the Y-specific binary markers YAP, DYZ3, SRY "!)$" and the (CA)n microsatellites YCAII and DYS413. Phylogenetic relationships of chromosomes with the same binary haplotype were condensed in seven large one-step networks, which accounted for 95% of all chromosomes. Their coalescence ages were estimated based on microsatellite diversity. The three largest and oldest networks undergo sharp frequency changes in three areas. The more recent network 3‐1A clearly discriminates between Western and Eastern European populations. Pairwise Fst showed an overall increment with increasing geographic distance but with a slope greatly reduced when compared …

Potential association of specific Candida parapsilosis genotypes, bloodstream infections and colonization of health workers' hands.

2014

AbstractFungal nosocomial infections continue to be a serious problem among hospitalized patients, decreasing quality of life and adding millions of euros to healthcare costs. The aim of this study was to describe the pattern of fungi associated with the hands of healthcare workers and to genotype Candida parapsilosis isolates in order to understand whether their high clinical prevalence stems from endemic nosocomial genotypes or from the real emergence of epidemiologically-unrelated strains. Approximately 39% (50/129) of healthcare workers were positive for yeasts and among 77 different fungal isolates recovered, C. parapsilosis was the most frequent (44/77; 57%). Twenty-seven diverse geno…

Microsatellite-based genotyping of Candida parapsilosis sensu stricto isolates reveals dominance and persistence of a particular epidemiological clon…

2012

In this study, using multilocus microsatellite analysis, we report the genetic characterization of 27 Candida parapsilosis isolates recovered in two different periods of time (2007-2009 and 2011-2012) from infants hospitalized in the neonatal intensive care unit of a hospital in Messina, Italy. The results revealed the persistence and dominance of a particular infectious genotype among NICU patients and highlight the power of the used microsatellite markers in clarifying epidemiologic associations, detect micro-evolutionary variations and facilitating the recognition of outbreaks. © 2012 Elsevier B.V.

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling.

2014

The type I interferon system is integral to human antiviral immunity. However, inappropriate stimulation or defective negative regulation of this system can lead to inflammatory disease. We sought to determine the molecular basis of genetically uncharacterized cases of the type I interferonopathy Aicardi-Goutières syndrome, and of other patients with undefined neurological and immunological phenotypes also demonstrating an upregulated type I interferon response. We found that heterozygous mutations in the cytosolic double-stranded RNA receptor gene IFIH1 (MDA5) cause a spectrum of neuro-immunological features consistently associated with an enhanced interferon state. Cellular and biochemica…

Interassay and interobserver comparability study of four programmed death-ligand 1 (PD-L1) immunohistochemistry assays in triple-negative breast canc…

2021

Different immunohistochemical programmed death-ligand 1 (PD-L1) assays and scorings have been reported to yield variable results in triple-negative breast cancer (TNBC). We compared the analytical concordance and reproducibility of four clinically relevant PD-L1 assays assessing immune cell (IC) score, tumor proportion score (TPS), and combined positive score (CPS) in TNBC. Primary TNBC resection specimens (n = 104) were stained for PD-L1 using VENTANA SP142, VENTANA SP263, DAKO 22C3, and DAKO 28–8. PD-L1 expression was scored according to guidelines on virtual whole slide images by four trained readers. The mean PD-L1 positivity at IC-score ≥1% and CPS ≥1 ranged between 53% and 75% with th…

Helicobacter pylori and Epstein–Barr Virus Co-Infection in Gastric Disease: What Is the Correlation with p53 Mutation, Genes Methylation and Microsat…

2023

Genetic predisposition, environmental factors, and infectious agents interact in the development of gastric diseases. Helicobacter pylori (Hp) and Epstein–Barr virus (EBV) infection has recently been shown to be correlated with these diseases. A cross-sectional study was performed on 100 hospitalized Italian patients with and without gastric diseases. The patients were stratified into four groups. Significant methylation status differences among CDH1, DAPK, COX2, hMLH1 and CDKN2A were observed for coinfected (Hp-EBV group) patients; particularly, a significant presence of COX2 (p = 0.0179) was observed. For microsatellite instability, minor stability was described in the Hp-HBV group (69.23…

APPROACHES TO STUDY BIODIVERSITY AND SALINITY TOLERANCE MECHANISMS IN MEDITERRANEAN FRUIT TREE SPECIES

Changes in global climate are going to increase the problem of drought and soil salinity in the Mediterranean area, where increases in temperature, drought and soil and water salinity are expected. Identification of plant genotypes with positive agronomic traits, such as salt tolerance, may reduce the effects of salinity and drought on productivity. Therefore, there is considerable effort being directed toward the development of salt-tolerant genotypes through plant breeding, with the aim to the introgression of salt-tolerance traits into new cultivars. The results presented in this thesis contributed to the develop of new tools to improve knowledge on the biodiversity and salinity toleranc…

The Sicilian peach (Prunus persica L. Batsch) germplasm: Evaluation of genetic diversity using SSRs

2006

The decrease in worldwide consumption of peaches due to the poor flavour quality of the fruit has increased the demand for new tasty cultivars. The availability of plant genetic resources is an important prerequisite for improving fruit quality by breeding. In Sicily there is a large collection of local cultivated peaches, whose production fills a niche in the local markets, but which is at risk of disappearing. Their characteristics include highly aromatic fruit and late ripening. Because of their important agronomic characteristics, the Department of Colture Arboree of Palermo University has collected the most interesting accessions to safeguard them and to use the indigenous resources in…

An investigation of the self- and inter-incompatibility of the olive cultivars 'Arbequina' and 'Koroneiki' in the Mediterranean climate of Sicily

2016

In this investigation, the self-(in)compatibility of the Spanish cultivar Arbequina and the Greek cultivar Koroneiki was studied for the first time in Sicily, where these low vigour cultivars were recently introduced in super-intensive olive groves. Self- (S.P.) and openpollination (O.P.) tests, observation of fruit set and paternity test of seeds with microsatellite (SSR) markers, were performed to ascertain whether these cultivars were self-fertile and/or inter-compatible. For S.P. tests, branches with flowers at the balloon stage were bagged. For the O.P. tests, flowers were left to pollinate under natural conditions. Fruits from S.P. and O.P. were collected in November and fruit set was…