Search results for " Polymorphism"

A High Sensitive Nested PCR for Toxoplasma gondii Detection in Animal and Food Samples

2013

Toxoplasma gondii is a major food and waterborne transmitted parasite world-wide. The tissues and meat samples of many warm blooded animals can contain tissues cysts from chronic toxoplasmosis. Water and vegetable can be contaminated by the parasitic oocysts shed through the feces of infected cats, representing the definitive host of the parasite. A sensitive PCR for Toxoplasma gondii detection is described. The first step amplified the region between the 28S and 18S rDNA in the closely related T. gondii and Neospora caninum; RFLP analysis distinguished the DNA from the two morphologically identical parasites. Although N. caninum is not involved in human transmission, so far, it is importan…

Globularia nudicaulis, a new host of Cucumber mosaic virus

2006

) is a perennial, foundnaturally on European mountains at altitudes between 900 and 2000 m.In June 2004, G. nudicaulis plants, with a yellow mosaic and/or variega-tion on malformed leaves, were noted among plant species cultivated in theBotanical Garden at Bologna University, Italy. No elongated virus-likeparticles were observed in affected-leaf extracts by transmission electronmicroscopy using a leaf dip method. By applying a protein A sandwichenzyme-linked immunosorbent assay (PAS-ELISA) technique ( Edwards Csystemic symptoms were observed in Nicotiana tabacum , N. benthamiana ,N. glutinosa, N. clevelandii and Capsicum annuum, and Cucumis sativusand C. melo. Reverse transcription-polymera…

Lack of association betweenMDM2promoter SNP309 and clinical outcome in patients with neuroblastoma

2014

While a polymorphism located within the promoter region of the MDM2 proto-oncogene, SNP309 (T > G), has previously been associated with increased risk and aggressiveness of neuroblastoma and other tumor entities, a protective effect has also been reported in certain other cancers. In this study, we evaluated the association of MDM2 SNP309 with outcome in 496 patients with neuroblastoma and its effect on MDM2 expression. No significant difference in overall or event-free survival was observed among patients with neuroblastoma with or without MDM2 SNP309. The presence of SNP309 does not affect MDM2 expression in neuroblastoma. Pediatr Blood Cancer 2014; 61:1867–1870. © 2014 Wiley Periodicals,…

Melanin-based colour polymorphism signals aggressive personality in nest and territory defence in the tawny owl (Strix aluco)

2013

Nest and territory defence are risky and potentially dangerous behaviours. If the resolution of life history trade-offs differs between individuals, the level of defence may also vary among individuals. Because melanin-based colour traits can be associated with life history strategies, differently coloured individuals may display different nest and territory defence strategies. We investigated this issue in the colour polymorphic tawny owl (Strix aluco) for which plumage varies from dark to light reddish melanic. Accordingly, we found that (1) our presence induced a greater response (flying around) from dark-coloured than light-coloured females and (2) dark reddish males suffered lower nest…

BOVITA: a first overview on genome-wide genetic diversity of Italian autochthonous cattle breeds

2017

Role of genetic polymorphisms in myocardial infarction at young age

2010

Acute myocardial infarction (AMI) in young adult presents a typical pattern of risk factors, clinical, angiographic and prognostic characteristics. In the last years we demonstrated that hemorheological profile is altered in these patients in a persistent way and independently of the number of risk factors and of the extent of coronary lesions. Thus, the hyperviscosity syndrome following AMI could be considered an intrinsic characteristic of these patients. Consequently it is possible to hypothesise the presence of a genetic background at the origin of this predisposition. If this background is able to influence the risk of ischemic heart disease, this should be particularly evident in youn…

Bacterial communities in Arctic fjelds of Finnish Lapland are stable but highly pH-dependent

2007

The seasonal and spatial variations of microbial communities in Arctic fjelds of Finnish Lapland were studied. Phospholipid fatty acid analysis (PLFA) and terminal restriction fragment analysis (T-RFLP) of amplified 16S rRNA genes were used to assess the effect of soil conditions and vegetation on microbial community structures along different altitudes of two fjelds, Saana and Jehkas. Terminal restriction fragments were additionally analysed from c . 160 cloned sequences and isolated bacterial strains and matched with those of soil DNA samples. T-RFLP and PLFA analyses indicated relatively similar microbial communities at various altitudes and under different vegetation of the two fjelds. …

The ATXN1 and TRIM31 genes are related to intelligence in an ADHD background: evidence from a large collaborative study totaling 4,963 subjects

2010

Contains fulltext : 96400.pdf (Publisher’s version ) (Closed access) Intelligence is a highly heritable trait for which it has proven difficult to identify the actual genes. In the past decade, five whole-genome linkage scans have suggested genomic regions important to human intelligence; however, so far none of the responsible genes or variants in those regions have been identified. Apart from these regions, a handful of candidate genes have been identified, although most of these are in need of replication. The recent growth in publicly available data sets that contain both whole genome association data and a wealth of phenotypic data, serves as an excellent resource for fine mapping and …

Absence of mutation at the GAP-related domain of the neurofibromatosis type 1 gene in sporadic neurofibrosarcomas and other bone and soft tissue sarc…

1995

The NF1 gene encodes neurofibromin, a GTPase-activating protein containing a GAP-related domain (NF1-GRD) that is capable of downregulating ras by stimulating ras intrinsic GTPase activity. We tested 44 sarcomas, nine of which corresponded to sporadic neurofibrosarcomas, for mutations at the NF1-GRD by the polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) technique, finding no mutation in every sample tested. We suggest that inactivation of the NF1-GRD by gene mutation seems not to be an important event in the tumorigenesis of sarcomas.

Meta-analysis of gene–environment-wide association scans accounting for education level identifies additional loci for refractive error

2016

Myopia is the most common human eye disorder and it results from complex genetic and environmental causes. The rapidly increasing prevalence of myopia poses a major public health challenge. Here, the CREAM consortium performs a joint meta-analysis to test singlenucleotide polymorphism (SNP) main effects and SNP education interaction effects on refractive error in 40,036 adults from 25 studies of European ancestry and 10,315 adults from 9 studies of Asian ancestry. In European ancestry individuals, we identify six novel loci (FAM150B-ACP1, LINC00340, FBN1, DIS3L-MAP2K1, ARID2-SNAT1 and SLC14A2) associated with refractive error. In Asian populations, three genome-wide significant loci AREG, G…