896 resultados para Whole genome mapping


Relevância:

30.00% 30.00%

Publicador:

Resumo:

The aim of this study is to map the awareness of gender, socioeconomic, immigrant and ethnic health inequalities in health at schools, maternal health and traffic injury health prevention programs. The study was conducted in the 19 health descentralized areas in Spain, 17 autonomous community (ACs) and the 2 autonomous cities (ACities). The data were collected from May 2008 to January 2009. The unit of analysis was the collection of policy documents setting out the programs mentioned above and the related support material in each AC. A reading guide was used to analyze the awareness of inequalities. With regard to health at schools, 2 of 10 programs show a high awareness of inequalities and include many specific proposals to be implemented at the local level. Regarding maternal health, 13 ACs have prepared support material with high awareness of inequalities to be implemented. A traffic injury program has been created in two ACs. We map the whole situation in Spain regarding the health programs that we have used as examples and their awareness of inequalities. We can conclude that there are differences between the regions studied in Spain and in general, the awareness of inequalities is low.

Relevância:

30.00% 30.00%

Publicador:

Resumo:

Retinitis pigmentosa (RP) is a group of progressive inherited retinal dystrophies that cause visual impairment as a result of photoreceptor cell death. RP is heterogeneous, both clinically and genetically making difficult to establish precise genotype–phenotype correlations. In a Spanish family with autosomal recessive RP (arRP), homozygosity mapping and whole-exome sequencing led to the identification of a homozygous mutation (c.358_359delGT; p.Ala122Leufs*2) in the ZNF408 gene. A screening performed in 217 additional unrelated families revealed another homozygous mutation (c.1621C>T; p.Arg541Cys) in an isolated RP case. ZNF408 encodes a transcription factor that harbors 10 predicted C2H2-type fingers thought to be implicated in DNA binding. To elucidate the ZNF408 role in the retina and the pathogenesis of these mutations we have performed different functional studies. By immunohistochemical analysis in healthy human retina, we identified that ZNF408 is expressed in both cone and rod photoreceptors, in a specific type of amacrine and ganglion cells, and in retinal blood vessels. ZNF408 revealed a cytoplasmic localization and a nuclear distribution in areas corresponding with the euchromatin fraction. Immunolocalization studies showed a partial mislocalization of the p.Arg541Cys mutant protein retaining part of the WT protein in the cytoplasm. Our study demonstrates that ZNF408, previously associated with Familial Exudative Vitreoretinopathy (FEVR), is a new gene causing arRP with vitreous condensations supporting the evidence that this protein plays additional functions into the human retina.

Relevância:

30.00% 30.00%

Publicador:

Resumo:

Complementary programs

Relevância:

30.00% 30.00%

Publicador:

Resumo:

Software for video-based multi-point frequency measuring and mapping: http://hdl.handle.net/10045/53429

Relevância:

30.00% 30.00%

Publicador:

Resumo:

Description based on: March 1993; title from cover.

Relevância:

30.00% 30.00%

Publicador:

Resumo:

A low-density, male-based linkage map was constructed as one of the objectives of the International Equine Gene Mapping Workshop. Here we report the second generation map based on testing 503 half-sibling offspring from 13 sire families for 344 informative markers using the crimap program. The multipoint linkage analysis localized 310 markers (90%) with 257 markers being linearly ordered. The map included 34 linkage groups representing all 31 autosomes and spanning 2262 cM with an average interval between loci of 10.1 cM. This map is a milestone in that it is the first map with linkage groups assigned to each of the 31 automosomes and a single linkage group to all but three chromosomes.

Relevância:

30.00% 30.00%

Publicador:

Resumo:

The standard variance components method for mapping quantitative trait loci is derived on the assumption of normality. Unsurprisingly, statistical tests based on this method do not perform so well if this assumption is not satisfied. We use the statistical concept of copulas to relax the assumption of normality and derive a test that can perform well under any distribution of the continuous trait. In particular, we discuss bivariate normal copulas in the context of sib-pair studies. Our approach is illustrated by a linkage analysis of lipoprotein(a) levels, whose distribution is highly skewed. We demonstrate that the asymptotic critical levels of the test can still be calculated using the interval mapping approach. The new method can be extended to more general pedigrees and multivariate phenotypes in a similar way as the original variance components method.

Relevância:

30.00% 30.00%

Publicador:

Resumo:

Fusarium wilt of tomato, caused by the fungal pathogen, Fusarium oxysporum f. sp. lycopersici (Fol), is an economically damaging disease that results in huge losses in Australia and other countries worldwide. The I-3 gene, which confers resistance to Fol race 3, has been described in wild tomato, Lycopersicon pennellii, accessions LA716 and PI414773. We are pursuing the isolation of I-3 from LA716 by map-based cloning. We have constructed a high-resolution map of the I-3 region and have identified markers closely flanking I-3 as well as markers co-segregating with I-3. In addition, construction of a physical map based on these markers has been initiated. This review describes the context of our research and our progress towards isolating the I-3 gene. It also describes some important practical outcomes of our work, including the development and use of a PCR-based marker for marker-assisted selection for I-3, and the finding that the I-3 gene from LA716 is different to that from PI1414773, which we have now designated I-7. Tomato varieties combining I-3 and I-7 have been developed and are currently being introduced into commercial production to further safeguard tomato crops against Fusarium wilt.

Relevância:

30.00% 30.00%

Publicador:

Resumo:

The mapping and sequencing of the human genome has generated a large resource for answering questions about human disease. This achievement is akin in scientific importance to developing the periodic table of elements. Plastic surgery has always been at the frontier medical research. This resource will help us to improve our understanding on the many unknown physiological and pathogical conditions we deal with daily, such as wound heating keloid scar formation, Dupuytren's disease, rheumatoid arthritis, vascular malformation and carcinogenesis. We are primed in obtaining both disease and normal tissues to use this resource and applying it to clinical use. This review is about the human genome, the basis of gene expression profiling and how it will affect our clinical and research practices in the future and for those embarking on the use of this new technology as a research tool, we provide a brief insight on its limitations and pitfalls. (C) 2006 The British Association of Plastic Surgeons. Published by Elsevier Ltd. All rights reserved.

Relevância:

30.00% 30.00%

Publicador:

Resumo:

A new passive shim design method is presented which is based on a magnetization mapping approach. Well defined regions with similar magnetization values define the optimal number of passive shims, their shape and position. The new design method is applied in a shimming process without prior-axial shim localization; this reduces the possibility of introducing new errors. The new shim design methodology reduces the number of iterations and the quantity of material required to shim a magnet. Only a few iterations (1-5) are required to shim a whole body horizontal bore magnet with a manufacturing error tolerance larger than 0.1 mm and smaller than 0.5 mm. One numerical example is presented

Relevância:

30.00% 30.00%

Publicador:

Resumo:

During the "Polarstern"-expeditions ARK-IX/4 (1993) and ARK-XI/1 (1995), organised by the Alfred Wegener Institute (AWI), acoustic subbottom profiles (Parasound) have been collected in the Laptev Sea Shelf, Siberia. These data have been interpreted as an indicator of ice scours frequency and off-shore permafrost patterns. An additional acoustic profile data-base was available by the results of the expedition of the Federal Institute for Geosciences and Natural Resources (BGR) of the year 1994. The area of the expedition was located closer to the shelf, therefore supports a better understanding of ice scours frequency in shallower marine environments. The data-file consists of a 2930 km Parasound-traverse and has been subdivided into 586 working profiles. They are characterised by their location, number of ice scours, interpreted patterns of reflection and their extension and morphology. The data have been evaluated statistically and graphically and were presented in a map. Different patterns of sea floor reflection were established by different environments, outer influences (e.g. size of the icebergs, direction of the drift of icebergs) and the climatic history of the region. In the north-westerly region of the Laptev Sea at the continental slope of Severnaya Zemlya the sea floor in shallower depths has been ploughed intensely by recent icebergs. In some regions (40-60m), as an effect of intensely ploughing, the sea floor is hardly defined in acoustic profiles come along with relocation of marine deposits. Glacial diamiet deposits prevented the development of deep scours. Up to 355m deeper scours result from lower sea levels. The marginal north-easterly region of the Laptev Sea is characterised exclusively by this type of scour. Morphology and depth of these scours can be compared with those of the westerly Vilkitsky-Street so that similar conditions of development may be expected. Both, the north-easterly Laptev Sea and the Vilkitsky-Street, are not dominated by patterns ofrecent icebergs. In contrary the shelf-regions north-easterly ofthe Taimyr peninsula and north-westerly of the New Siberian Islands have been modified evidently by recent icebergs, which drifted with prevalent currents anticlockwise along the shelf edge of the Laptev Sea and cause the deepest scours of the whole region. The off-shore permafrost at the inner shelf regions has an important influence on the scours intensity. The permafrost layer can be recognised by the maximum depth of ice scours. It is represented by a Parasound reflector that can be made up for distances. The age of the ice scours cannot be determined absolutely by Parasound data but a relative order can be estimated whenever two scours are situated close to each other. When the Parasound-traverse ofthe expedition ARK-IX/4 (1993) (77°24'N 133°30'E-77°30'N 133°40'E) was repeated partially in expedition ARK-XI/l (1995) the ice scours of 1993 remained unchanged and uneroded and no new ice scours had been detected. It can be concluded that scours persist for a long time in the Laptev Sea, though after all with an average of 3 ice scours per kilometer there are not many at all in the Laptev Sea.

Relevância:

30.00% 30.00%

Publicador:

Resumo:

BACKGROUND: Multiple recent genome-wide association studies (GWAS) have identified a single nucleotide polymorphism (SNP), rs10771399, at 12p11 that is associated with breast cancer risk. METHOD: We performed a fine-scale mapping study of a 700 kb region including 441 genotyped and more than 1300 imputed genetic variants in 48,155 cases and 43,612 controls of European descent, 6269 cases and 6624 controls of East Asian descent and 1116 cases and 932 controls of African descent in the Breast Cancer Association Consortium (BCAC; http://bcac.ccge.medschl.cam.ac.uk/ ), and in 15,252 BRCA1 mutation carriers in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Stepwise regression analyses were performed to identify independent association signals. Data from the Encyclopedia of DNA Elements project (ENCODE) and the Cancer Genome Atlas (TCGA) were used for functional annotation. RESULTS: Analysis of data from European descendants found evidence for four independent association signals at 12p11, represented by rs7297051 (odds ratio (OR) = 1.09, 95 % confidence interval (CI) = 1.06-1.12; P = 3 × 10(-9)), rs805510 (OR = 1.08, 95 % CI = 1.04-1.12, P = 2 × 10(-5)), and rs1871152 (OR = 1.04, 95 % CI = 1.02-1.06; P = 2 × 10(-4)) identified in the general populations, and rs113824616 (P = 7 × 10(-5)) identified in the meta-analysis of BCAC ER-negative cases and BRCA1 mutation carriers. SNPs rs7297051, rs805510 and rs113824616 were also associated with breast cancer risk at P < 0.05 in East Asians, but none of the associations were statistically significant in African descendants. Multiple candidate functional variants are located in putative enhancer sequences. Chromatin interaction data suggested that PTHLH was the likely target gene of these enhancers. Of the six variants with the strongest evidence of potential functionality, rs11049453 was statistically significantly associated with the expression of PTHLH and its nearby gene CCDC91 at P < 0.05. CONCLUSION: This study identified four independent association signals at 12p11 and revealed potentially functional variants, providing additional insights into the underlying biological mechanism(s) for the association observed between variants at 12p11 and breast cancer risk

Relevância:

30.00% 30.00%

Publicador:

Resumo:

We performed fluorescent in situ hybridization (FISH) for 16q23 abnormalities in 861 patients with newly diagnosed multiple myeloma and identified deletion of 16q [del(16q)] in 19.5%. In 467 cases in which demographic and survival data were available, del(16q) was associated with a worse overall survival (OS). It was an independent prognostic marker and conferred additional adverse survival impact in cases with the known poor-risk cytogenetic factors t(4;14) and del(17p). Gene expression profiling and gene mapping using 500K single-nucleotide polymorphism (SNP) mapping arrays revealed loss of heterozygosity (LOH) involving 3 regions: the whole of 16q, a region centered on 16q12 (the location of CYLD), and a region centered on 16q23 (the location of the WW domain-containing oxidoreductase gene WWOX). CYLD is a negative regulator of the NF-kappaB pathway, and cases with low expression of CYLD were used to define a "low-CYLD signature." Cases with 16q LOH or t(14;16) had significantly reduced WWOX expression. WWOX, the site of the translocation breakpoint in t(14;16) cases, is a known tumor suppressor gene involved in apoptosis, and we were able to generate a "low-WWOX signature" defined by WWOX expression. These 2 genes and their corresponding pathways provide an important insight into the potential mechanisms by which 16q LOH confers poor prognosis.