Search results for "Allele"
showing 10 items of 1006 documents
Role of individual's T cell immunome in controlling HIV-1 progression
2014
Viral and host factors can influence HIV-1 progression, among them human leucocyte antigen (HLA) has shown the strongest effect. However, studies on the functional contribution of HLA in controlling HIV progression toward AIDS are limited by multiple issues, including the viral strain variability within the study subjects. In this study, in a cohort of children infected with a monophyletic strain (CRF02_AG) during an outbreak, we evaluated the HIV-1 Gag, Vif, Vpr, Tat and hepatitis C virus E1/E2 (as control) proteins circulating in a cohort for the capability to be presented by the HLA molecules in the same population. A total of 70 Non-progressors and 37 Progressors to AIDS were evaluated.…
EFFECT OF SHAPE ON POTATO AND CAULIFLOWER SHRINKAGE DURING DRYING
2000
ABSTRACT Shrinkage of potato cubes, parallelepipeds and cylinders was addressed during drying. A basic methodology by using image analysis was set-up in order to measure and monitor geometrical changes along the drying process. Both measurements by image analysis and directly with a calliper were carried out. Results from both methods showed a good agreement with no bias. Particle shape was found to influence shrinkage in a different way according to the axis. In fact the larger dimension shrinks less than the shorter one. This could be linked to the influence of the core drying in shrinkage. Experiments were also carried out for cauliflower stems. The difference in shrinkage between direct…
Anisotropy of the stiffness and strength of rigid low-density closed-cell polyisocyanurate foams
2016
The cells of polymer foams are usually extended in the foam rise direction, causing a geometrical anisotropy, the degree of which, characterized by the cell aspect ratio R, depends on foam density and production method. Such elongated cell shape translates into anisotropy of the mechanical properties of foams. Rigid low-density closed-cell polyisocyanurate foams of apparent density ranging from ca. 30 to 75 kg/m3, containing polyols derived from renewable resources, have been produced and tested for the stiffness and strength in the foam rise and transverse directions in order to experimentally characterize their mechanical anisotropy. Analytical relations for foams with rectangular paralle…
One- and multi-locus multi-allele selection models in a random environment
1979
We deduce conditions for stochastic local stability of general perturbed linear stochastic difference equations widely applicable in population genetics. The findings are adapted to evaluate the stability properties of equilibria in classical one- and multi-locus multi-allele selection models influenced by random temporal variation in selection intensities. As an example of some conclusions and biological interpretations we analyse a special one-locus multi-allele model in more detail.
Prader–Willi Syndrome with Angelman Syndrome in the Offspring
2021
We report the second case, to the best of our knowledge, of a mother with Prader–Willi syndrome (PWS) who gave birth to a daughter with Angelman syndrome (AS). The menarche occurred when she was 16, and the following menstrual cycles were irregular, but she never took sexual hormone replacement therapy. At the age of 26, our patient with PWS became pregnant. The diagnosis was confirmed by molecular genetic testing that revealed a ~5.7 Mb deletion in the 15q11.1–15q13 region on the paternal allele in the mother with PWS and the maternal one in the daughter with AS, respectively. Both the mother with PWS and the daughter with AS showed peculiar clinical and genetic features of the two syndrom…
The 1258 GA polymorphism in the neuropeptide Y gene is associated with greater alcohol consumption in a Mediterranean population.
2011
Abstract Neuropeptide Y (NPY) is a neurotransmitter widely distributed in the central nervous system. Several studies have demonstrated that increases of NPY are associated with reduced alcohol intake and anxiety manifestations. The Leu7Pro polymorphism in the NPY has been associated with alcohol consumption, but evidence is scarce. In the Spanish Mediterranean population, this variant is not polymorphic. Thus, our aim is to identify novel functional variants in the NPY and to investigate the impact of these markers and others previously described on alcohol consumption in this population. A total of 911 subjects (321 men and 590 women) from the Spanish Mediterranean population were recruit…
Analyzing Illumina Gene Expression Microarray Data from Different Tissues: Methodological Aspects of Data Analysis in the MetaXpress Consortium
2012
Microarray profiling of gene expression is widely applied in molecular biology and functional genomics. Experimental and technical variations make meta-analysis of different studies challenging. In a total of 3358 samples, all from German population-based cohorts, we investigated the effect of data preprocessing and the variability due to sample processing in whole blood cell and blood monocyte gene expression data, measured on the Illumina HumanHT-12 v3 BeadChip array. Gene expression signal intensities were similar after applying the log(2) or the variance-stabilizing transformation. In all cohorts, the first principal component (PC) explained more than 95% of the total variation. Technic…
Mixed infection by Legionella pneumophila in outbreak patients.
2013
During the molecular epidemiological study of a legionellosis outbreak, we obtained sequence based typing (SBT) profiles from uncultured respiratory samples of 15 affected patients. We detected several distinct allelic profiles some of which were a mixture of alleles present in the more common profiles. Chromatograms from the sequences of one patient with mixed profile showed polymorphisms in several positions, which could result from the simultaneous presence of different Legionella variants in the sample. In order to test this possibility, we cloned PCR amplification products from six loci for two patients with a mixed profile and a patient with a pure profile. After obtaining around 20 s…
Human toll-like receptor 4 mutations are associated with susceptibility to invasive meningococcal disease in infancy.
2006
Toll-like receptor 4 (TLR4) is required for efficient recognition of bacterial infections. We investigated an association between 2 TLR4 mutations (Asp 299 Gly and Thr 399 Ile) and meningococcal disease in 197 patients and 214 healthy controls by allele-specific real time polymerase chain reaction and direct sequencing. Although the allele frequency was not higher in the overall patient population, a significantly higher frequency in the 40 patients younger than 12 months of age (P = 0.007) was observed. We conclude that TLR4 mutations represent a risk factor for meningococcal disease in this age group.
vacA Genotypes and Genetic Diversity in Clinical Isolates of Helicobacter pylori
1998
ABSTRACT Genetic diversity in Helicobacter pylori strains may affect the function and antigenicity of virulence factors associated with bacterial infection and, ultimately, disease outcome. In this study, DNA diversity of H. pylori isolates was examined by analysis of vacA genotypes and by restriction fragment length polymorphism (RFLP) analysis of H. pylori -associated genes ( vacA , cagA , flaA , ureAB , and ureCD ). Thirty-seven H. pylori isolates from 26 patients were successfully classified into distinct vacA allelic genotypes. The signal sequence allele s1 (31 of 37) predominated over the s2 allele (6 of 37) and was significantly associated with the occurrence (past or present) of gas…