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At least 955 records · Page 53Linked to original sources
PubMed2003

Diagnostic yield of gastric biopsy specimens when screening for preneoplastic lesions.

The Sydney system recommends sites and numbers of stomach biopsies (mapping) for evaluation of Helicobacter pylori-associated lesions. The diagnostic yield of the recommended mapping technique in populations at high risk for gastric preneoplastic lesions has not been established. We evaluated pathology data from 733 endoscopies performed as part of an intervention study that assessed the effects of H. pylori treatment on preneoplastic conditions. Two pathologists assessed whether the mapping sequence of the 7 biopsy specimens obtained during each endoscopy was correctly followed and graded the specimens using the Sydney classification for gastritis. If the mapping sequence was followed, then we evaluated whether the amount of information obtained from 3 biopsy samples approximated that obtained from 5 and 7 biopsy samples. The mapping sequence was followed in only 239 (33%) endoscopies, indicating that experienced endoscopists can inadvertently misidentify sites in the stomach when obtaining specimens. When data from 7 specimens were used, H. pylori was found in 205 endoscopies, atrophy in 152, metaplasia in 135, and dysplasia in 22. When data from 3 specimens were used, the sensitivity was 99% for presence of H. pylori, 82% for atrophy and metaplasia, and 81% for dysplasia. When data from 5 specimens were used, the sensitivity was 100% for H. pylori, 96% for atrophy, and 95% for metaplasia and dysplasia. Although site-specific biopsy mapping is difficult in practice, the recommendations of the Sydney system as to the location and number of gastric biopsy specimens can adequately identify significant gastric histopathology.

Biopsy↗
PubMedDate not supplied

Genetic characterization of southwestern European bovine breeds: a historical and biogeographical reassessment with a set of 16 microsatellites.

The origin of Iberian cattle has been suggested by some authors to be the product of European and north African cattle entrances during the last few thousands of years. However, these hypotheses were mainly based on morphological similarities. This study analyzed 889 unrelated individuals from 15 representative Iberian breeds and 3 French breeds for 16 microsatellite loci. Statistical tests were used to calculate interpopulation genetic distances (D(A)) and principal components analysis (PCA). To visualize the geographical distribution of the genetic differentiation between Iberian cattle breeds, data from the PCA analysis were used to construct synthetic maps. Genetic similarity among neighboring Iberian breeds is mainly caused by gene flow. However, recent demographic fluctuations and reproductive isolation in Alistana, Mirandesa, and Tudanca has increased genetic drift, which may be the main cause for the relatively high differentiation of these populations. The synthetic maps constructed with the first and second PCs revealed (1) a large differentiation between Northern Iberian breeds rather than between more geographically distant breeds, and (2) a clear east-west gradient that may be related with the model of demic diffusion of agriculture. Finally, we detected no strong evidence for an African genetic influence in the Iberian cattle breeds analyzed in this study.

Africa, Northern↗
PubMedDate not supplied

Genetics of Drosophila subobscura populations. VIII. Allozyme loci and their chromosome maps.

Genetic information on 25 enzyme polymorphisms in Drosophila subobscura, the location of corresponding genes, and cytological and genetic maps of the chromosomes are presented, as well as photographic maps of the salivary gland chromosomes in the third instar larva and white-case early pupal stages. Biochemical markers were used to establish chromosomal homologies among D. subobscura, D. pseudoobscura, D. melanogaster, and D. willistoni.

Acid Phosphatase↗
PubMed2001

Human genetics: lessons from Quebec populations.

The population of Quebec, Canada (7.3 million) contains approximately 6 million French Canadians; they are the descendants of approximately 8500 permanent French settlers who colonized Nouvelle France between 1608 and 1759. Their well-documented settlements, internal migrations, and natural increase over four centuries in relative isolation (geographic, linguistic, etc.) contain important evidence of social transmission of demographic behavior that contributed to effective family size and population structure. This history is reflected in at least 22 Mendelian diseases, occurring at unusually high prevalence in its subpopulations. Immigration of non-French persons during the past 250 years has given the Quebec population further inhomogeneity, which is apparent in allelic diversity at various loci. The histories of Quebec's subpopulations are, to a great extent, the histories of their alleles. Rare pathogenic alleles with high penetrance and associated haplotypes at 10 loci (CFTR, FAH, HBB, HEXA, LDLR, LPL, PAH, PABP2, PDDR, and SACS) are expressed in probands with cystic fibrosis, tyrosinemia, beta-thalassemia, Tay-Sachs, familial hypercholesterolemia, hyperchylomicronemia, PKU, oculopharyngeal muscular dystrophy, pseudo vitamin D deficiency rickets, and spastic ataxia of Charlevoix-Saguenay, respectively) reveal the interpopulation and intrapopulation genetic diversity of Quebec. Inbreeding does not explain the clustering and prevalence of these genetic diseases; genealogical reconstructions buttressed by molecular evidence point to founder effects and genetic drift in multiple instances. Genealogical estimates of historical meioses and analysis of linkage disequilibrium show that sectors of this young population are suitable for linkage disequilibrium mapping of rare alleles. How the population benefits from what is being learned about its structure and how its uniqueness could facilitate construction of a genomic map of linkage disequilibrium are discussed.

Genetic Diseases, Inborn↗
PubMed1983

Demographic characteristics of settlement and a demogeographic regionalization of the USSR.

"An approach to the delimitation of demogeographic regions in the USSR is proposed and a network of 27 regions is developed and mapped." Geographical differences in population reproduction, structure, and migration at various territorial levels are examined. Data are provided on changes in urban population between 1959 and 1979; total, urban, and rural population growth during that period; total and rural population density in 1979; and rates of natural increase as of 1960, 1965, 1970, and 1974.

Demography↗
PubMed2006

Inheritance and mapping of a powdery mildew resistance gene introgressed from Avena macrostachya in cultivated oat.

The powdery mildew resistance from Avena macrostachya was successfully introgressed into hexaploid oat (A. sativa). Genetic analysis of F(1), F(2), F(3) and BC(1) populations from two powdery-mildew resistant introgression lines revealed that the resistance is controlled by a dominant gene, tentatively designated Eg-5. Molecular marker analysis was conducted using bulked-segregant analysis in two segregating F(3) populations. One codominant simple sequence repeats (SSR) marker AM102 and four AFLP-derived PCR-based markers were successfully developed. The SSR marker AM102 and the STS marker ASE41M56 were linked to the gene Eg-5, with genetic distances of 2 and 0.4 cM, respectively, in both mapping populations. Three STS markers (ASE45M56, ASE41M61, ASE36M55) co-segregated with Eg-5 in one population while two (ASE45M56, ASE36M55) of them linked to Eg-5 with a genetic distance of 1 cM in another population. The gene was further mapped to be in a region corresponding to linkage group 22_44+18 in the Kanota x Ogle (KO) hexaploid oat map by comparative mapping. To our knowledge, this is the first report of mapping powdery-mildew resistance in hexaploid oat. The new resistance source of A. macrostachya, together with the tightly linked markers identified here, could be beneficial in oat breeding programmes.

Ascomycota↗
PubMed2006

A first-generation microsatellite-based integrated genetic and cytogenetic map for the European rabbit (Oryctolagus cuniculus) and localization of angora and albino.

Although the European rabbit (Oryctolagus cuniculus) is used both in agronomics and in research, genomic resources for this species are still limited and no microsatellite-based genetic map has been reported. Our aim was to construct a rabbit genetic map with cytogenetically mapped microsatellites so as to build an integrated genetic and cytogenetic map. A reference population of 187 rabbits comprising eight three-generation families with 10-25 offspring per family was produced. One hundred and ninety-four of 305 previously identified microsatellites were included in this study. Of these, 158 were polymorphic with two to seven alleles. The map reported here comprises 111 markers, including 104 INRA microsatellites, five microsatellites from another source and two phenotypic markers (angora and albino). Ninety markers were integrated into 20 linkage groups. The remaining 21 microsatellites mapped to separate linkage groups, 19 with a precise cytogenetic position and two with only a chromosomal assignment. The genetic map spans 2766.6 cM and covers 20 rabbit chromosomes, excluding chromosomes 20, 21 and X. The density of this map is limited, but we used it to verify the location of angora and albino on chromosomes 15q and 1q, respectively, in agreement with previously published data. This first generation genetic/cytogenetic map will help gene identification and quantitative trait loci mapping projects in rabbit.

Alleles↗
PubMed2006

A standard cytogenetic photomap for the mosquito Anopheles stephensi (Diptera: Culicidae): application for physical mapping.

To facilitate physical genome mapping, we have developed a new cytogenetic photomap for Anopheles stephensi (Liston) (Diptera: Culicidae), an important malaria vector in Asia. The high-resolution images of the ovarian polytene chromosomes have been straightened and divided by numbered divisions and lettered subdivisions. The exact chromosomal locations of eight DNA probes have been determined by fluorescent in situ hybridization. Using the DNA sequences, we have established correspondence between chromosomal arms among An. stephensi, Anopheles gambiae (Patton), and Anopheles funestus (Giles). The results support previous cytogenetic observations of arm translocations taking place during diversification of the species. To make the cytogenetic map useful for population genetics studies, we have indicated the chromosomal positions for the breakpoints of 19 polymorphic inversions.

Animals↗
PubMed2000

Construction of a genetic linkage map for Camellia sinensis (tea).

Genetic maps are a vital tool in cultivar improvement programmes for woody perennial tree crops such as tea (Camellia sinensis). A population thought to be derived from two known, noninbred parents was scored for RAPD and AFLP markers, in order to develop a linkage map. However, a very high proportion of the markers exhibited unexpected segregation ratios in the light of their configurations in the parents, and an exploratory statistical analysis revealed patterns in the marker scores which can most easily be explained by the hypothesis of three male parents contributing pollen to this cross. We discuss the evidence for this and the subsequent analysis required to assemble the markers from the female parent into the first linkage map for tea. The map has 15 linkage groups of three or more markers, agreeing with the haploid chromosome number of tea. The statistical methods that revealed the subpopulations are easy to apply routinely, and may prove a useful diagnostic tool for the analysis of noninbred mapping populations.

Chromosome Mapping↗
PubMed2005

Coupled map lattice approximations for spatially explicit individual-based models of ecology.

Spatially explicit individual-based models are widely used in ecology but they are often difficult to treat analytically. Despite their intractability they often exhibit clear temporal and spatial patterning. We demonstrate how a spatially explicit individual-based model of scramble competition with local dispersal can be approximated by a stochastic coupled map lattice. The approximation disentangles the deterministic and stochastic element of local interaction and dispersal. We are thus able to understand the individual-based model through a simplified set of equations. In particular, we demonstrate that demographic noise leads to increased stability in the dynamics of locally dispersing single-species populations. The coupled map lattice approximation has general application to a range of spatially explicit individual-based models. It provides a new alternative to current approximation techniques, such as the method of moments and reaction-diffusion approximation, that captures both stochastic effects and large-scale patterning arising in individual-based models.

Animals↗
PubMed2026

Genomic Structural Equation Modeling Identifies a Shared Inflammatory Genetic Dimension Across Inflammatory Arthritis Phenotypes and Biomarkers.

BACKGROUND: Inflammatory arthritis (IA), including rheumatoid arthritis (RA), psoriatic arthritis (PsA) and gout, shares systemic inflammatory features indexed by C-reactive protein (CRP) and interleukin-6 (IL-6), yet the extent of their common genetic basis remains unclear. AIMS: We aimed to delineate the shared genetic architecture across IA phenotypes and inflammatory biomarkers. MATERIALS AND METHODS: We applied genomic structural equation modelling (Genomic SEM) to GWAS summary statistics for RA, PsA, gout, CRP and IL-6, fitted a single common factor, and performed multivariate GWAS followed by fine-mapping, transcriptome-wide association, gene-based analysis, pathway enrichment, and cell-type and spatial mapping. RESULTS: A single common factor was fitted (CFI = 0.990, SRMR = 0.045). The multivariate GWAS identified 56 genome-wide significant SNPs across 10 independent lead loci, including one novel signal. Fine-mapping prioritized high-confidence variants near PTPN22, the CRP gene cluster and a urate-associated locus. Gene-level analyses converged on DCLRE1B, PTPN22, IL6R, NLRP3 and HNF1A, with pathway enrichment implicating inflammasome assembly and metabolic-inflammatory overlap. Cell-type enrichment highlighted myeloid populations, and spatial mapping localized signals to lung, kidney, mucosal epithelium and gastrointestinal tissues. DISCUSSION: These results delineate a shared inflammatory genetic dimension across IA phenotypes and biomarkers, anchored in immune, inflammasome, cytokine-receptor and metabolic pathways. CONCLUSION: Together, these findings provide a valuable framework for prioritizing candidate genes and cellular contexts for future investigation.

TWAS↗
PubMed2001

Aerogeophysical measurements of collapse-prone hydrothermally altered zones at Mount Rainier volcano.

Hydrothermally altered rocks can weaken volcanoes, increasing the potential for catastrophic sector collapses that can lead to destructive debris flows. Evaluating the hazards associated with such alteration is difficult because alteration has been mapped on few active volcanoes and the distribution and severity of subsurface alteration is largely unknown on any active volcano. At Mount Rainier volcano (Washington, USA), collapses of hydrothermally altered edifice flanks have generated numerous extensive debris flows and future collapses could threaten areas that are now densely populated. Preliminary geological mapping and remote-sensing data indicated that exposed alteration is contained in a dyke-controlled belt trending east-west that passes through the volcano's summit. But here we present helicopter-borne electromagnetic and magnetic data, combined with detailed geological mapping, to show that appreciable thicknesses of mostly buried hydrothermally altered rock lie mainly in the upper west flank of Mount Rainier. We identify this as the likely source for future large debris flows. But as negligible amounts of highly altered rock lie in the volcano's core, this might impede collapse retrogression and so limit the volumes and inundation areas of future debris flows. Our results demonstrate that high-resolution geophysical and geological observations can yield unprecedented views of the three-dimensional distribution of altered rock.

Journal Article↗
PubMed2004

Assessing potential risk of heavy metal exposure from consumption of home-produced vegetables by urban populations.

We performed a risk assessment of metal exposure to population subgroups living on, and growing food on, urban sites. We modeled uptake of cadmium, copper, nickel, lead, and zinc for a selection of commonly grown allotment and garden vegetables. Generalized linear cross-validation showed that final predictions of Cd, Cu, Ni, and Zn content of food crops were satisfactory, whereas the Pb uptake models were less robust. We used predicted concentrations of metals in the vegetables to assess the risk of exposure to human populations from homegrown food sources. Risks from other exposure pathways (consumption of commercially produced foodstuffs, dust inhalation, and soil ingestion) were also estimated. These models were applied to a geochemical database of an urban conurbation in the West Midlands, United Kingdom. Risk, defined as a "hazard index," was mapped for three population subgroups: average person, highly exposed person, and the highly exposed infant (assumed to be a 2-year-old child). The results showed that food grown on 92% of the urban area presented minimal risk to the average person subgroup. However, more vulnerable population subgroups (highly exposed person and the highly exposed infant) were subject to hazard index values greater than unity. This study highlights the importance of site-specific risk assessment and the "suitable for use" approach to urban redevelopment.

Dust↗
PubMed2004

Conformational heterogeneity of an equilibrium folding intermediate quantified and mapped by scanning mutagenesis.

It is challenging to experimentally define an energy landscape for protein folding that comprises multiple partially unfolded states. Experimental results are often ambiguous as to whether a non-native state is conformationally homogeneous. Here, we tested an approach combining systematic mutagenesis and a Brønsted-like analysis to reveal and quantify conformational heterogeneity of folding intermediate states. Using this method, we resolved an otherwise apparently homogeneous equilibrium folding intermediate of Borrelia burgdorferi OspA into two conformationally distinct species and determined their relative populations. Furthermore, we mapped the structural differences between these intermediate species, which are consistent with the non-native species that we previously proposed based on native-state hydrogen exchange studies. When treated as a single state, the intermediate ensemble exhibited fractional Phi-values for mutations and Hammond-type behaviors that are often observed for folding transition states. We found that a change in relative population of the two species within the intermediate ensemble explains these properties well, suggesting that fractional Phi-values and Hammond-type behaviors exhibited by folding intermediates and transition states may arise more often from conformational heterogeneity than from a single partial structure. Our results are consistent with the presence of multiple minima in a rugged energy landscape predicted from theoretical studies. The method described here provides a promising means to probe a complex folding energy landscape.

Antigens, Surface↗
PubMed2005

A Population-Average, Landmark- and Surface-based (PALS) atlas of human cerebral cortex.

This report describes a new electronic atlas of human cerebral cortex that provides a substrate for a wide variety of brain-mapping analyses. The Population-Average, Landmark- and Surface-based (PALS) atlas approach involves surface-based and volume-based representations of cortical shape, each available as population averages and as individual subject data. The specific PALS-B12 atlas introduced here is derived from structural MRI volumes of 12 normal young adults. Accurate cortical surface reconstructions were generated for each hemisphere, and the surfaces were inflated, flattened, and mapped to standard spherical configurations using SureFit and Caret software. A target atlas sphere was generated by averaging selected landmark contours from each of the 24 contributing hemispheres. Each individual hemisphere was deformed to this target using landmark-constrained surface registration. The utility of the resultant PALS-B12 atlas was demonstrated using a variety of analyses. (i) Probabilistic maps of sulcal identity were generated using both surface-based registration (SBR) and conventional volume-based registration (VBR). The SBR approach achieved markedly better consistency of sulcal alignment than did VBR. (ii) A method is introduced for 'multi-fiducial mapping' of volume-averaged group data (e.g., fMRI data, probabilistic architectonic maps) onto each individual hemisphere in the atlas, followed by spatial averaging across the individual maps. This yielded a population-average surface representation that circumvents the biases inherent in choosing any single hemisphere as a target. (iii) Surface-based and volume-based morphometry applied to maps of sulcal depth and sulcal identity demonstrated prominent left-right asymmetries in and near the superior temporal sulcus and Sylvian fissure. Moreover, shape variability in the temporal lobe is significantly greater in the left than the right hemisphere. The PALS-B12 atlas has been registered to other surface-based atlases to facilitate interchange of data and comparison across atlases. All data sets in the PALS-B12 atlas are accessible via the SumsDB database for online and offline visualization and analysis.

Adolescent↗
PubMed2006

Ross River virus disease clusters and spatial relationship with mosquito biting exposure in Redland Shire, southern Queensland, Australia.

The spatial heterogeneity in the risk of Ross River virus (family Togaviridae, genus Alphavirus, RRV) disease, the most common mosquito-borne disease in Australia, was examined in Redland Shire in southern Queensland, Australia. Disease cases, complaints from residents of intense mosquito biting exposure, and human population data were mapped using a geographic information system. Surface maps of RRV disease age-sex standardized morbidity ratios and mosquito biting complaint morbidity ratios were created. To determine whether there was significant spatial variation in disease and complaint patterns, a spatial scan analysis method was used to test whether the number of cases and complaints was distributed according to underlying population at risk. Several noncontiguous areas in proximity to productive saline water habitats of Aedes vigilax (Skuse), a recognized vector of RRV, had higher than expected numbers of RRV disease cases and complaints. Disease rates in human populations in areas which had high numbers of adult Ae. vigilax in carbon dioxide- and octenol-baited light traps were up to 2.9 times those in areas that rarely had high numbers of mosquitoes. It was estimated that targeted control of adult Ae. vigilax in these high-risk areas could potentially reduce the RRV disease incidence by an average of 13.6%. Spatial correlation was found between RRV disease risk and complaints from residents of mosquito biting. Based on historical patterns of RRV transmission throughout Redland Shire and estimated future human population growth in areas with higher than average RRV disease incidence, it was estimated that RRV incidence rates will increase by 8% between 2001 and 2021. The use of arbitrary administrative areas that ranged in size from 4.6 to 318.3 km2 has the potential to mask any small scale heterogeneity in disease patterns. With the availability of georeferenced data sets and high-resolution imagery, it is becoming more feasible to undertake spatial analyses at relatively small scales.

Aedes↗
PubMed2002

Analysis on additive effects and additive-by-additive epistatic effects of QTLs for yield traits in a recombinant inbred line population of rice.

A linkage map consisting of 158 DNA markers were constructed by using a recombinant inbred line (RIL) population derived from the indica-indica rice cross Zhenshan 97B x Milyang 46. Quantitative trait loci (QTLs) conditioning grain yield and five yield component traits were determined at the one-locus and two-locus levels, and genotype-by-environment (GE) interactions were analyzed. Thirty-one QTLs were detected to have significant additive effects for yield traits, of which 12 also exhibited significant epistatic effects. Sixteen significant additive-by-additive (AA) interactions were detected, of which nine occurred between QTLs with own additive effects (M(ep)QTLs), four occurred between QTLs showing epistatic effects only (epQTLs), and three occurred between M(ep)QTLs and epQTLs. Significant GE interactions were found for six QTLs with additive effects and one AA interaction. Generally, the contributions to the phenotypic variation were higher due to QTL main effects than to epistatic effects. The detection of additive effects and AA effects of a QTL interfered with each other, indicating that the detection of QTLs with main effects, as well as the magnitude and directions of the additive effects, might vary depending on their interactions with other loci.

Journal Article↗
PubMed2003

QTL mapping provides evidence for lack of association of the avoidance of leaf rust in Hordeum chilense with stomata density.

In cereals, rust fungi are among the most harmful pathogens. Breeders usually rely on short-lived hypersensitivity resistance. As an alternative, "avoidance" may be a more durable defence mechanism to protect plants to rust fungi. In Hordeum chilense avoidance is based on extensive wax covering of stomata, which interferes with the induction of appressorium formation by the rust fungi. High avoidance levels are associated with a higher stoma density on the abaxial leaf epidermis. The avoidance level was assessed as the percentage of germ tube/stoma encounters that did not result in appressorium differentiation by Puccinia hordei, the barley leaf rust fungus. One hundred F(2) individuals from the cross between two H. chilense accessions with contrasting levels of avoidance showed a continuous distribution for avoidance of the rust fungus and for stoma density, indicating quantitative inheritance of the traits. No significant correlation was found between avoidance and stoma density in the segregating F(2) population. In order to map quantitative trait loci (QTLs) for both traits, an improved molecular marker linkage map was constructed, based on the F(2) population. The resulting linkage map spanned 620 cM and featured a total of 437 AFLP markers, thirteen RFLPs, four SCARs, nine SSRs, one STS and two seed storage protein markers. It consisted of seven long and two shorter linkage groups, and was estimated to cover 81% of the H. chilense genome. Restricted multiple interval mapping identified two QTLs for avoidance and three QTLs for stoma density in the abaxial leaf surface. The QTLs for avoidance were mapped on chromosome 3 and 5; those for stoma density on chromosomes 1, 3 and 7. Only the two QTLs regions located on chromosome 3 (one for avoidance and the other for stoma density) overlapped. The wild barley H. chilense has a high crossability with other members of the Triticeae tribe. The knowledge on the location of the QTLs responsible for the avoidance trait is a prerequisite to transfer this favourable agronomic trait from H. chilense to cultivated cereal genomes.

Basidiomycota↗