Search results for " Genotyping"

Análisis de resultados del Programa de Control de Calidad Externo SEIMC de carga viral del VIH-1, VHC y VHB. AÑO 2018

2020

BACKGROUND Human immunodeficiency virus type 1 (HIV-1) and hepatitis B (HBV) and C virus (HCV) viral load determinations are among the most relevant markers for the follow-up of patients infected with these viruses. External quality control tools are crucial to ensure the accuracy of the results obtained by microbiology laboratories. This article summarised the results obtained from the 2017 SEIMC External Quality Control Programme for HIV-1, HCV, and HBV viral loads and HCV genotyping. METHODS AND RESULTS In the HIV-1 programme, a total of five standards were sent. One standard consisted of seronegative human plasma, while the remaining four contained plasma from three different viremic pa…

Polymorphisms in DCDC2 and S100B associate with developmental dyslexia

2015

Genetic studies of complex traits have become increasingly successful as progress is made in next-generation sequencing. We aimed at discovering single nucleotide variation present in known and new candidate genes for developmental dyslexia: CYP19A1, DCDC2, DIP2A, DYX1C1, GCFC2 (also known as C2orf3), KIAA0319, MRPL19, PCNT, PRMT2, ROBO1 and S100B. We used next-generation sequencing to identify single-nucleotide polymorphisms in the exons of these 11 genes in pools of 100 DNA samples of Finnish individuals with developmental dyslexia. Subsequent individual genotyping of those 100 individuals, and additional cases and controls from the Finnish and German populations, validated 92 out of 111 …

Human papillomavirus genotype attribution in invasive cervical cancer: a retrospective cross-sectional worldwide study.

2010

Summary Background Knowledge about the distribution of human papillomavirus (HPV) genotypes in invasive cervical cancer is crucial to guide the introduction of prophylactic vaccines. We aimed to provide novel and comprehensive data about the worldwide genotype distribution in patients with invasive cervical cancer. Methods Paraffin-embedded samples of histologically confirmed cases of invasive cervical cancer were collected from 38 countries in Europe, North America, central South America, Africa, Asia, and Oceania. Inclusion criteria were a pathological confirmation of a primary invasive cervical cancer of epithelial origin in the tissue sample selected for analysis of HPV DNA, and informa…

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…

Metodo per la tracciabilità/autenticazione di prodotti lattiero-caseari mono-razza

2016

Il brevetto consiste in un metodo per l’autenticazione e la tracciabilità genetica delle produzioni lattiero-casearie mono-razza su base molecolare con approccio statistico-probabilistico. Il metodo si basa sull’impiego di tecniche di analisi ad elevata processività (in particolare SNPs genotyping su Bead Chip Illumina) su pool di DNA e sull’applicazione di metodi computazionali innovativi. Il metodo è già stato validato su produzioni lattiero-casearie ovine quali la Vastedda della Valle del Belice (DOP), sia su prodotti lattiero caseari a DOP ottenuti in laboratorio, che su prodotti a DOP reperibili sul mercato. Il metodo può comunque essere esteso, su richiesta, a qualsiasi altro prodotto…

Analysis of Illumina BovineSNP50 BeadChip data in different Italian cattle breeds to identify useful markers for breed authentication of dairy and be…

2013

The identification of the breed of origin of cattle derived products has recently assumed particular relevance since the increasing interest in marketing mono-breed labelled cheese and beef. These products are usually sold at a higher price creating financial incentives to substituting them with lower value products coming from undifferentiated or common breeds or crossbred animals. Frauds can damage these valuable niche markets that, indirectly, may help to preserve genetic diversity through the economic incentive on raising local breeds, derived by the high value products, that are usually less productive. DNA analysis can help to identify fraudulent behaviour as we already demonstrated f…

Age-associated changes in circulatory fatty acids: new insights on adults and long-lived individuals

2022

Long-lived individuals (LLIs) are considered an ideal model to study healthy human aging. Blood fatty acid (FA) profile of a cohort of LLIs (90–111 years old, n = 49) from Sicily was compared to adults (18–64 years old, n = 69) and older adults (65–89 years old, n = 54) from the same area. Genetic variants in key enzymes related to FA biosynthesis and metabolism were also genotyped to investigate a potential genetic predisposition in determining the FA profile. Gas chromatography was employed to determine the FA profile, and genotyping was performed using high-resolution melt (HRM) analysis. Blood levels of total polyunsaturated FA (PUFA) and total trans-FA decreased with age, while the lev…

HCV genotypes in western Sicily: any evidence for a shift?

2008

Background: The relative prevalence of each HCV strain in a specific country is characterized by a predominant genotype and a number of other sub-prevalent types. Over the last decade a shift away from the prevalent HCV G1 towards G3 and G4 has been reported in some countries, and might affect the global management of HCV disease. Aim: In order to assess any possible variation in the prevalence of HCV genotypes in Sicily, we surveyed an hospital based cohort of subjects with chronic HCV infection observed over the last ten years. Patient and methods: 3209 Italian patients resident in Western Sicily, 1842/1367 M/F, between 1 and 89 years of age, presented at our tertiary referral Laboratory …

Detection and genotyping of Giardia duodenalis in oreto river (Sicily, south Italy)

2008

The aim of this study was to identify whether the origin of Oreto river Giardia contamination was derived from one of the influents, which flows near Monreale city and receives its treated wastewater, or from livestock living in farms along the river. Genotypes were characterized by DNA sequencing analysis of PCR products of TPI gene. 17 water samples coming from Oreto basin, 20 fecal animal samples and 7 human fecal samples from 3 patients with giardiasis were processed. Cysts were typed as assemblage A (n=11), B (n=2) and A+B (n=4) in water samples, as assemblage A (n=4) and B (n=2) in human samples, while in livestock was found only assemblage E. Subtype AII was prevalent in both water a…

Mitochondrial genotyping of isolates of the arbuscular mycorrhizal fungus "Glomus intraradices" from the isolate collection of the International Bank…

2011

International audience; The culture collection of the International Bank of Glomeromycota (BEG) provides an important service to scientific community and industry by acting as a repository for well-defined AMF isolates which are made available to the public. The most widely-used species has been referred to as "Glomus intraradices", and was recently renamed Rhizophagus irregularis. This species has emerged as a model organism for experimental research and is the subject of the first AMF genome to be sequenced. The only genetic marker that can currently be used to distinguish strains of R. irregularis in field settings is the mitochondrial large subunit (mtLSU). In addition, genetically dist…