Search results for "genotyp"

Large-scale genotyping identifies 41 new loci associated with breast cancer risk

2013

Journal article Breast cancer is the most common cancer among women. Common variants at 27 loci have been identified as associated with susceptibility to breast cancer, and these account for ~9% of the familial risk of the disease. We report here a meta-analysis of 9 genome-wide association studies, including 10,052 breast cancer cases and 12,575 controls of European ancestry, from which we selected 29,807 SNPs for further genotyping. These SNPs were genotyped in 45,290 cases and 41,880 controls of European ancestry from 41 studies in the Breast Cancer Association Consortium (BCAC). The SNPs were genotyped as part of a collaborative genotyping experiment involving four consortia (Collaborat…

Inheritance in the water frog Rana ridibunda Pallas, 1771 - Is it Mendelian or hemiclonal?

2008

The genome of Rana ridibunda has been detected in all known hybridogenetic water frog systems. This raises the question whether R. ridibunda is pre-adapted to reproduce hemiclonally by hybridogenesis. We allozymatically compared genotypes of primary oocytes and somatic cells of R. ridibunda females from several sites in southern France. In case of hemiclonal reproduction only one allele per locus is expected to be detectable in oocytes. However, patterns detected from oocytes of analysed females were not different from those of sexually reproducing water frogs. We therefore conclude that R. ridibunda in southern France reproduces sexually and is not pre-adapted to hemiclonal reproduction.

A Particular Focus on the Prevalence of α- and β-Thalassemia in Western Sicilian Population from Trapani Province in the COVID-19 Era

2023

Thalassemia is a Mendelian inherited blood disease caused by α- and β-globin gene mutations, known as one of the major health problems of Mediterranean populations. Here, we examined the distribution of α- and β-globin gene defects in the Trapani province population. A total of 2,401 individuals from Trapani province were enrolled from January 2007 to December 2021, and routine methodologies were used for detecting the α- and β-globin genic variants. Appropriate analysis was also performed. Eight mutations in the α globin gene showed the highest frequency in the sample studied; three of these genetic variants represented the 94% of the total α-th…

Appearance before performance? : Nutritional constraints on life‐history traits, but not warning signal expression in aposematic moths

2020

1.Trade‐offs have been shown to play an important role in the divergence of mating strategies and sexual ornamentation, but their importance in explaining warning signal diversity has received less attention. In aposematic organisms, allocation costs of producing the conspicuous warning signal pigmentation under nutritional stress could potentially trade‐off with life‐history traits and maintain variation in warning colouration. 2. We studied this with an aposematic herbivore Arctia plantaginis (Arctiidae), whose larvae and adults show extensive variation in aposematic colouration. In larvae, less melanic colouration (i.e. larger orange patterns) produces a more efficient warning signal aga…

Incidence and dynamics of active cytomegalovirus infection in allogeneic stem cell transplant patients according to single nucleotide polymorphisms i…

2014

Single nucleotide polymorphisms (SNPs) in genes involved in the activation or regulation of innate and adaptive immune responses may modulate the susceptibility to and the natural history of certain chronic viral infections. The current study aimed to investigate whether donor and recipient SNPs in the chemokine receptor 5 (rs1800023), monocyte chemoattractant protein 1 (rs13900), interleukin-10 (rs1878672), and Toll-like receptor 9 (rs352140) genes would exert any influence on the rate of incidence and features of CMV DNAemia in the allogeneic stem cell transplantation setting. This was a retrospective observational multicenter study. The cohort consisted of 102 non-consecutive allogeneic …

Nonlinearities in plant RNA virus fitness

2012

Una de las mayores amenazas tanto para la salud humana y animal, como para la agronomía es la emergencia de nuevas enfermedades infecciosas, la mayoría de las cuales están causadas por los virus de RNA. La emergencia viral es un problema complejo que consista en la adquisición de la variación genética, por mutación o recombinación, dentro de la población viral en el huésped reservorio la cual podría facilitar la capacidad de infectar de manera eficiente nuevos huéspedes. Los virus de RNA presentan a una evolucionabilidad extraordinaria por sus grandes tamaños poblacionales, cortos tiempos de generación y altas tasas de mutación y recombinación. Comprender los mecanismos evolutivos que podrí…

Rapid and sensitive detection of metapneumovirus in clinical specimens by indirect fluorescence assay using a monoclonal antibody.

2008

Human metapneumovirus, with two known genotypes named A and B, is associated with mild respiratory symptoms to severe LRTI in children, high-risk adults and the elderly. Rapid and reliable methods of hMPV detection in clinical samples are essential to implement appropriate care, to better understand the pathology of hMPV and to determine its epidemiology. Respiratory samples from 1,386 patients collected during 2 consecutive years were screened for hMPV using indirect immunofluorescence (IFA) assay with a monoclonal antibody. Forty-three patients tested positive for hMPV by the IFA method. In parallel, the samples were examined with RT-PCR on the F gene. Of these, 41 specimens were RT-PCR p…

Clinical utility gene card for: von Hippel-Lindau (VHL).

2013

Genetic variability at αs2-casein gene in Girgentana dairy goat breed

2014

Casein genes are highly polymorphic and the high degree of variability has qualitative and quantitative effects on milk composition thereby affecting chemical, physical and technological properties of goat milk. The aim of this work was to evaluate the genetic polymorphisms of the αs2-casein (CSN1S2) gene in the endangered Girgentana dairy goat breed in order to assess the genotypes distribution, as it is known genotype influences technological and nutritional milk properties. The study was performed on 207 sample of Girgentana goat breed, analysed with different PCR protocols. The most frequent alleles was A (0.722), followed by F (0.225), C (0.051) and E (0.002) while B, D and 0 alleles w…