Search results for " polymorphism"

TP53 codon 72 polymorphism and cervical cancer

2009

Background Cervical cancer is caused primarily by human papillomaviruses (HPV). The polymorphism rs1042522 at codon 72 of the TP53 tumour-suppressor gene has been investigated as a genetic cofactor. More than 80 studies were done between 1998 and 2006, after it was initially reported that women who are homozygous for the arginine allele had a risk for cervical cancer seven times higher than women who were heterozygous for the allele. However, results have been inconsistent. Here we analyse pooled data from 49 studies to determine whether there is an association between TP53 codon 72 polymorphism and cervical cancer.Methods Individual data on 7946 cases and 7888 controls from 49 different st…

Reciprocal hybridization at different times between Senecio flavus and Senecio glaucus gave rise to two polyploid species in north Africa and south‐w…

2006

Summary • The analysis of hybrid plant taxa using molecular methods has considerably extended understanding of possible pathways of hybrid evolution. • Here, we investigated the origin of the tetraploid Senecio mohavensis ssp. breviflorus and the hexaploid Senecio hoggariensis by sequencing of nuclear and chloroplast DNA, and by analysis of the distribution of taxon-specific amplified fragment length polymorphism (AFLP) fragments. • Both taxa originated from hybridization between the diploid Senecio flavus and Senecio glaucus. Whereas S. glaucus was the female parent in the origin of S. mohavensis ssp. breviflorus, S. flavus was the female parent in the origin of S. hoggariensis. • The dist…

In silico and in vitro comparative analysis to select, validate and test SNPs for human identification.

2007

Abstract Background The recent advances in human genetics have recently provided new insights into phenotypic variation and genome variability. Current forensic DNA techniques involve the search for genetic similarities and differences between biological samples. Consequently the selection of ideal genomic biomarkers for human identification is crucial in order to ensure the highest stability and reproducibility of results. Results In the present study, we selected and validated 24 SNPs which are useful in human identification in 1,040 unrelated samples originating from three different populations (Italian, Benin Gulf and Mongolian). A Rigorous in silico selection of these markers provided …

Evaluation of a new pooling strategy based on leukocyte count for rapid quantification of allele frequencies.

2007

Abstract Background: Allele frequencies of single-nucleotide polymorphisms (SNPs) can be quantified from DNA pools. The conventional preparation of DNA pools requires DNA isolation and quantification for each blood sample. We hypothesized that pooling of whole blood samples according to their leukocyte count, which determines DNA content, would be as reliable as the conventional pooling method but much less tedious to perform. Methods: We collected 100 whole blood samples and measured the leukocyte count. Samples were frozen until further use. After thawing, pools were generated by combining aliquots containing an equal number of leukocytes. In parallel, DNA was extracted from another aliqu…

BDNF polymorphisms and outcome of post-traumatic vegetative state: results from an Italian multicentric study

2011

Effect of single-species and mixed-species leaf leachate on bacterial communities in biofilms

2009

Dissolved organic matter in the form of leaf leachate represents an important carbon and energy source in many lotic ecosystems. In this study, we investigated utilization of mono-specific and mixed-species leaf leachate and impacts on biofilm bacterial community structure. Ceramic tiles were incubated in a Northeast Ohio stream to allow for biofilm development and then exposed in the laboratory to glucose or leachate from: sugar maple (Acer saccharum), pin oak (Quercus palustris), maple oak, American beech (Fagus grandifolia), witch hazel (Hamamelis virginiana), or beech witch hazel. Bacterial responses to these amendments were compared to un-amended controls based on fluorescent in situ h…

Gene polymorphisms of micrornas in Helicobacter pylori-induced high risk atrophic gastritis and gastric cancer.

2013

Background and aims MicroRNAs (miRNAs) are known for their function as translational regulators of tumor suppressor or oncogenes. Single nucleotide polymorphisms (SNPs) in miRNAs related genes have been shown to affect the regulatory capacity of miRNAs and were linked with gastric cancer (GC) and premalignant gastric conditions. The purpose of this study was to evaluate potential associations between miRNA-related gene polymorphisms (miR-27a, miR-146a, miR-196a-2, miR-492 and miR-608) and the presence of GC or high risk atrophic gastritis (HRAG) in European population. Methods Gene polymorphisms were analyzed in 995 subjects (controls: n = 351; GC: n = 363; HRAG: n = 281) of European descen…

Association between COX-2 rs 6681231 genotype and interleukin-6 in periodontal connective tissue. A pilot study.

2014

[Objectives] The aim of this pilot study was to investigate associations between IL-6 and COX-2 expression in gingival biopsies and both clinical diagnosis and genotypes in the IL-6 and COX-2 genes. [Design] A case-control study included 41 gingival biopsies obtained from Caucasian patients grouped according to clinical diagnosis of gingival health (n = 10), gingivitis (n = 15) or chronic periodontitis (n = 16). Immunohistochemistry analyses were performed to determine COX-2 expression in lamina propria, IL-6 expression in lamina propria and gingival epithelium and level of inflammatory cell infiltrate. Individual DNA was extracted and genotyped by real-time PCR for IL6 SNPs rs 2069827 and …

Usefulness of omp1 restriction mapping for avian Chlamydia psittaci isolate differentiation

1995

Abstract Sixty-five avian Chlamydia psittaci isolates collected worldwide, including 27 previously characterized reference strains, were analysed by restriction mapping of the major outer membrane protein gene ( omp1 ) obtained after DMA amplification by PCR. They were compared to 2 ruminant isolates, a feline pneumonitis and a guinea pig inclusion conjunctivitis (GPIC) isolate. According to their omp1 restriction patterns, avian strains were heterogeneous in that they exhibited 6 and 4 distinct patterns using Alu I and Mbo II restriction enzymes, respectively, thus defining 7 groups. However, 84% of the studied strains belonged to groups 1 to 4, which share a specific fragment triplet of 4…

Evidence for transforming growth factor-beta 3 gene polymorphism in non-syndromic cleft lip and palate patients from indian sub-continent

2011

Objectives: Orofacial clefts are major human birth defects with complex etiology. Previous studies have proposed Transforming growth factor - beta 3 (TGF-β3) gene as a key player in contributing to non-syndromic cleft lip and palate, however none of the studies have yet included Indian population. Hence this study was designed to detect TGF-β3 gene polymorphism in nonsyndromic cleft lip and palate patients from Indian population which is genetically distinct from previously studied populations. Study Design: Peripheral blood samples of forty non-syndromic cleft lip and palate patients and forty unaffected individuals were collected for a case – control study design. Ethical clearance from t…