Search results for "LOCUS"
showing 10 items of 632 documents
Identification of two additives, locust bean gum (E-410) and guar gum (E-412), in food products by DNA-based methods.
2004
Locust bean gum (E-410) and guar gum (E-412) are high molecular weight galactomannans used by the food industry as versatile food additives. The compounds, although chemically closely related, do not have the same functional properties when used in foods, and the substitution or unadvertised addition of either could change the desired qualities of the product. Analytical discrimination between E-410 and E-412 is technically difficult since they only differ in their galactose: mannose ratios, being 1 : 4 and 1 : 2 for locust bean gum and guar gum, respectively. A qualitative DNA-based method is reported for the authentication of additives E-410 and E-412 in finished food products (ice cream,…
Inter simple sequence repeat analysis of genetic diversity and relationships in cultivated barley of Nordic and Baltic origin
2004
This study evaluates putative changes of genetic diversity and relationships of barley in the Nordic and Baltic countries that might have taken place during the last century as a result of commercial breeding. Four ISSR primers were used to analyse 227 accessions, yielding a total of 47 polymorphic loci. Shannon-Weaver diversity values for each locus ranged from 0.012 to 0.693. Overall, there were no significant changes of genetic diversity observed over time. A significant decrease of diversity was, however, observed in material from the southern parts of the Nordic and Baltic countries. In material from the northern parts no decrease of diversity was observed. The genetic diversity of six…
Functional Molecular Biodiversity: Assessing the Immune Status of Two Sponge Populations (Suberites domuncula) on the Molecular Level
2004
. Porifera (sponges) are sessile filter feeders living primarily in the marine environment. In this study the population diversity of one species, the demosponge Suberites domuncula, has been investigated in an isolated area, the Limski Canal (LC) near Rovinj (Croatia; Mediterranean Sea), in comparison to that in the open sea (OS), only 10–20 km apart from the LC. The immune competence of the S. domuncula specimens was studied in response to exposure to the bacterial endotoxin LPS. The level of phosphorylation of the p38 kinase from specimens collected in LC is significantly lower than that of OS animals. To confirm the biochemical data on the molecular level, the technique of identificati…
Association of maternal prenatal smoking GFI1-locus and cardio-metabolic phenotypes in 18,212 adults
2018
Background: DNA methylation at the GFI1-locus has been repeatedly associated with exposure to smoking from the foetal period onwards. We explored whether DNA methylation may be a mechanism that links exposure to maternal prenatal smoking with offspring's adult cardio-metabolic health.Methods: We meta-analysed the association between DNA methylation at GFI1-locus with maternal prenatal smoking, adult own smoking, and cardio-metabolic phenotypes in 22 population-based studies from Europe, Australia, and USA (n= 18,212). DNA methylation at the GFI1-locus was measured in whole-blood. Multivariable regression models were fitted to examine its association with exposure to prenatal and own adult s…
Sequence analyses of S10-spcoperon among 16SrV group phytoplasmas: phylogenetic relationships and identification of discriminating single nucleotide …
2012
Phytoplasmas are cell-wall less, uncultivable bacteria, belonging to the class Mollicutes. They parasitise both plant hosts and insect vectors, but knowledge of their biological and molecular properties is limited. In particular, analyses of 16S rDNA nucleotide sequences revealed that 16SrV group phytoplasma strains identified in grapevine plants are closely related, but associated with distinct ecologies. In this work, we investigated the evolutionary relationships of eight representative 16SrV phytoplasma strains by sequencing 15 ribosomal protein (rp) genes positioned within the S10-spc operon. Phylogenetic analyses of concatenated nucleotide and amino acid sequences underscored that 16S…
Meta-analysis and imputation refines the association of 15q25 with smoking quantity.
2010
Smoking is a leading global cause of disease and mortality(1). We established the Oxford-GlaxoSmithKline study (Ox-GSK) to perform a genome-wide meta-analysis of SNP association with smoking-related behavioral traits. Our final data set included 41,150 individuals drawn from 20 disease, population and control cohorts. Our analysis confirmed an effect on smoking quantity at a locus on 15q25 (P = 9.45 x 10(-19)) that includes CHRNA5, CHRNA3 and CHRNB4, three genes encoding neuronal nicotinic acetylcholine receptor subunits. We used data from the 1000 Genomes project to investigate the region using imputation, which allowed for analysis of virtually all common SNPs in the region and offered a …
Desmin-related myopathy with mallory body-like inclusions is caused by mutations of the selenoprotein N gene
2004
Desmin-related myopathies (DRMs) are a heterogeneous group of muscle disorders, morphologically defined by intrasarcoplasmic aggregates of desmin. Mutations in the desmin and the alpha-B crystallin genes account for approximately one third of the DRM cases. The genetic basis of the other forms remain unknown, including the early-onset, recessive form with Mallory body-like inclusions (MB-DRMs), first described in five related German patients. Recently, we identified the selenoprotein N gene (SEPN1) as responsible for SEPN-related myopathy (SEPN-RM), a unique early-onset myopathy formerly divided in two different nosological categories: rigid spine muscular dystrophy and the severe form of c…
Genome wide association analysis in dilated cardiomyopathy reveals two new key players in systolic heart failure on chromosome 3p25.1 and 22q11.23
2020
SummaryWe present the results of the largest genome wide association study (GWAS) performed so far in dilated cardiomyopathy (DCM), a leading cause of systolic heart failure and cardiovascular death, with 2,719 cases and 4,440 controls in the discovery population. We identified and replicated two new DCM-associated loci, one on chromosome 3p25.1 (lead SNP rs62232870, p = 8.7 × 10−11 and 7.7 × 10−4 in the discovery and replication step, respectively) and the second on chromosome 22q11.23 (lead SNP rs7284877, p = 3.3 × 10−8 and 1.4 × 10−3 in the discovery and replication step, respectively) while confirming two previously identified DCM loci on chromosome 10 and 1, BAG3 and HSPB7. The genetic…
Genetic characterisation of CSN2 gene in Girgentana goat breed
2014
Among calcium sensitive caseins, β-casein is the most abundant in goat milk, representing up to 50% of total casein content. The goat β-casein locus has been widely investigated and at least ten alleles have been identified in different goat breeds. The aim of this work was to investigate the polymorphisms of β-casein gene in Girgentana dairy goat breed in order to assess the genotype distribution and evaluate how frequencies have changed during the last 10 years, as genotype is known to influence technological and nutritional milk properties. Sequencing analysis and alignment of the obtained sequences of β-casein exon 7, showed the presence of C, C1, and A strong alleles, and 0' null allel…
Mapping of Friedreich's ataxia locus by identification of recombination events in patients homozygous by descent
1994
The Friedreich's ataxia locus (FRDA) maps on chromosome 9q13. Genetic data, obtained from a small number of recombination events, indicated that the FRDA locus might be located centromeric to the D9S15/D9S5 linkage group, the most probable order being cen-FRDA-D9S5-D9S111-D9S15-D9S110-qter. Recently, new centromeric markers have been reported. Analysis of these markers allowed us to localize the recombination breakpoint in some of the recombinant families. However, only one proximal recombination has been found with these markers. To increase the genetic information from FRDA families, we have analyzed the centromeric markers FR1, FR2, FR7, FR8, and FR5 in patients homozygous by descent. Th…