989 resultados para chromosome mapping
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Background The Pacific Oceania region was one of the last regions of the world to be settled via human migration. Here we outline a settlement of this region that has given rise to a uniquely admixed population. The current Norfolk Island population has arisen from a small number of founders with mixed Caucasian and Polynesian ancestry, descendants of a famous historical event. The ‘Mutiny on the Bounty’ has been told in history books, songs and the big screen, but recently this story can be portrayed through comprehensive molecular genetics. Written history details betrayal and murder leading to the founding of Pitcairn Island by European mutineers and the Polynesian women who left Tahiti with them. Investigation of detailed genealogical records supports historical accounts. Findings Using genetics, we show distinct maternal Polynesian mitochondrial lineages in the present day population, as well as a European centric Y-chromosome phylogeny. These results comprehensively characterise the unique gender-biased admixture of this genetic isolate and further support the historical records relating to Norfolk Island. Conclusions Our results significantly refine previous population genetic studies investigating Polynesian versus Caucasian diversity in the Norfolk Island population and add information that is beneficial to future disease and gene mapping studies.
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Rural population of India constitutes about 70% of the total population and traditional fuels account for 75% of the rural energy needs. Depletion of woodlands coupled with the persistent dependency on fuel wood has posed a serious problem for household energy provision in many parts. This study highlights that the traditional fuels still meet 85-95% of fuel needs in rural areas of Kolar district: people prefer fuel wood for cooking and agriculture residues for water heating and other purposes. However, rapid changes in land cover and land use in recent times have affected these traditional fuels availability necessitating inventorying, mapping and monitoring of bioresources for sustainable management of bioresources. Remote sensing data (Multispectal and Panchromatic), Geographic Information System (GIS), field surveys and non-destructive sampling were used to assess spatially the availability and demand of energy. Field surveys indicate that rural household depends on species such as Prosopis juliflora, Acacia nilotica, Acacia auriculiformis to meet fuel wood requirement for domestic activities. Hence, to take stock of fuel wood availability, mapping was done at species level (with 88% accuracy) considering villages as sampling units using fused multispectral and panchromatic data. (C) 2009 Elsevier Ltd. All rights reserved.
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Common migraine, i.e. migraine with (MA) or without aura (MO), is a chronic neurological disorder affecting about 10% of the Caucasian population. In MA, migraine headache is preceded by visual, sensoric and/or dysphasic reversible aura symptoms. Twin and family studies have suggested a multifactorial mode of inheritance for common migraine, and a stronger genetic component for MA than for MO. Since there is no biological or genetic marker to identify common migraine, aura symptoms provide a distinctive character to identify those suspected of suffering from migraine. The aim of this study was to identify MA susceptibility loci in well-phenotyped migraine samples with familial predisposition using different gene mapping methods. Genes coding for endothelin1 and its receptors EDNRA and ENDRB are potential candidate genes for cortical spreading depression (CSD), which is considered to be the underlying mechanism of migraine aura. The role of these genes in MA was studied in 850 Finnish migraine cases and 890 control individuals. Rare homozygous EDNRA SNPs showed nominal association with MA and with the age of onset trait (20 years). This result was also detected in the pooled analysis on 648 German MA cases and 651 control individuals when the test was adjusted for gender and sample origin. Evaluation of SNP genotyping reactions with two different DNA polymerase enzymes ensured that the genotype quality was high, and thus the discovered associations are considered reliable. The role of the 19p13 region was studied in a linkage analysis of 72 Finnish MA families. This region contains two migraine-associated genes: CACNA1A, which is associated with a predisposition to a rare Mendelian form of MA, familial hemiplegic migraine (FHM), and the insulin receptor gene (INSR) that is associated with common migraine. No evidence of linkage between the 19p13 and MA was detected. A novel visual aura locus was mapped to chromosome 9q21-q22 with significant evidence of linkage using a genome-wide linkage approach in 36 Finnish MA families. Five additional, potential loci were also detected. The 9q21-q22 region has previously been linked to occipitotemporal lobe epilepsy and MA, both of which involve prominent visual symptoms. Our result further supports a shared background for these episodic disorders.
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Background In order to increase the efficient allocation of soil-transmitted helminth (STH) disease control resources in the Philippines, we aimed to describe for the first time the spatial variation in the prevalence of A. lumbricoides, T. trichiura and hookworm across the country, quantify the association between the physical environment and spatial variation of STH infection and develop predictive risk maps for each infection. Methodology/Principal Findings Data on STH infection from 35,573 individuals across the country were geolocated at the barangay level and included in the analysis. The analysis was stratified geographically in two major regions: 1) Luzon and the Visayas and 2) Mindanao. Bayesian geostatistical models of STH prevalence were developed, including age and sex of individuals and environmental variables (rainfall, land surface temperature and distance to inland water bodies) as predictors, and diagnostic uncertainty was incorporated. The role of environmental variables was different between regions of the Philippines. This analysis revealed that while A. lumbricoides and T. trichiura infections were widespread and highly endemic, hookworm infections were more circumscribed to smaller foci in the Visayas and Mindanao. Conclusions/Significance This analysis revealed significant spatial variation in STH infection prevalence within provinces of the Philippines. This suggests that a spatially targeted approach to STH interventions, including mass drug administration, is warranted. When financially possible, additional STH surveys should be prioritized to high-risk areas identified by our study in Luzon.
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In the general population, the timing of puberty is normally distributed. This variation is determined by genetic and environmental factors, but the exact mechanisms underlying these influences remain elusive. The purpose of this study was to gain insight into genetic regulation of pubertal timing. Contributions of genetic versus environmental factors to the normal variation of pubertal timing were explored in twins. Familial occurrence and inheritance patterns of constitutional delay of growth and puberty, CDGP (a variant of normal pubertal timing), were studied in pedigrees of patients with this condition. To ultimately detect genes involved in the regulation of pubertal timing, genetic loci conferring susceptibility to CDGP were mapped by linkage analysis in the same family cohort. To subdivide the overall phenotypic variance of pubertal timing into genetic and environmental components, genetic modeling based on monozygous twins sharing 100% and dizygous twins sharing 50% of their genes was used in 2309 girls and 1828 boys from the FinnTwin 12-17 study. The timing of puberty was estimated from height growth, i.e. change in the relative height between the age when pubertal growth velocity peaks in the general population and adulthood. This reflects the percentage of adult height achieved at the average peak height velocity age, and thus, pubertal timing. Boys and girls diagnosed with CDGP were gathered through medical records from six pediatric clinics in Finland. First-degree relatives of the probands were invited to participate by letter; altogether, 286 families were recruited. When possible, families were extended to include also second-, third-, or fourth-degree relatives. The timing of puberty in all family members was primarily assessed from longitudinal growth data. Delayed puberty was defined by onset of pubertal growth spurt or peak height velocity taking place 1.5 (relaxed criterion) or 2 SD (strict criterion) beyond the mean. If growth data were unavailable, pubertal timing was based on interviews. In this case, CDGP criteria were set as having undergone pubertal development more than 2 (strict criterion) or 1.5 years (relaxed criterion) later than their peers, or menarche after 15 (strict criterion) or 14 years (relaxed criterion). Familial occurrence of strict CDGP was explored in families of 124 patients (95 males and 29 females) from two clinics in Southern Finland. In linkage analysis, we used relaxed CDGP criteria; 52 families with solely growth data-based CDGP diagnoses were selected from all clinics. Based on twin data, genetic factors explain 86% and 82% of the variance of pubertal timing in girls and boys, respectively. In families, 80% of male and 76% of female probands had affected first-degree relatives, in whom CDGP was 15 times more common than the expected (2.5%). In 74% (17 of 23) of the extended families with only one affected parent, familial patterns were consistent with autosomal dominant inheritance. By using 383 multiallelic markers and subsequently fine-mapping with 25 additional markers, significant linkage for CDGP was detected to the pericentromeric region of chromosome 2, to 2p13-2q13 (multipoint HLOD 4.44, α 0.41). The findings of the large twin study imply that the vast majority of the normal variation of pubertal timing is attributed to genetic effects. Moreover, the high frequency of dominant inheritance patterns and the large number of affected relatives of CDGP patients suggest that genetic factors also markedly contribute to constitutional delay of puberty. Detection of the locus 2p13-2q13 in the pericentromeric region of chromosome 2 associating with CDGP is one step towards unraveling the genes that determine pubertal timing.
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Wildlife conservation involves an understanding of a specific animal, its environment and the interaction within a local ecosystem. Unmanned Aerial Vehicles (UAVs) present cost effective, non-intrusive solution for detecting animals over large areas and the use thermal imaging cameras offer the ability detect animals that would otherwise be concealed to visible light cameras. This report examines some of limitations on using SURF for the development of large maps using multiple stills images extracted from the thermal imaging video camera which contain wildlife (eg. Koala in them).
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Flood extent mapping is a basic tool for flood damage assessment, which can be done by digital classification techniques using satellite imageries, including the data recorded by radar and optical sensors. However, converting the data into the information we need is not a straightforward task. One of the great challenges involved in the data interpretation is to separate the permanent water bodies and flooding regions, including both the fully inundated areas and the wet areas where trees and houses are partly covered with water. This paper adopts the decision fusion technique to combine the mapping results from radar data and the NDVI data derived from optical data. An improved capacity in terms of identifying the permanent or semi-permanent water bodies from flood inundated areas has been achieved. Computer software tools Multispec and Matlab were used.
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The aim of the studies was to improve the diagnostic capability of electrocardiography (ECG) in detecting myocardial ischemic injury with a future goal of an automatic screening and monitoring method for ischemic heart disease. The method of choice was body surface potential mapping (BSPM), containing numerous leads, with intention to find the optimal recording sites and optimal ECG variables for ischemia and myocardial infarction (MI) diagnostics. The studies included 144 patients with prior MI, 79 patients with evolving ischemia, 42 patients with left ventricular hypertrophy (LVH), and 84 healthy controls. Study I examined the depolarization wave in prior MI with respect to MI location. Studies II-V examined the depolarization and repolarization waves in prior MI detection with respect to the Minnesota code, Q-wave status, and study V also with respect to MI location. In study VI the depolarization and repolarization variables were examined in 79 patients in the face of evolving myocardial ischemia and ischemic injury. When analyzed from a single lead at any recording site the results revealed superiority of the repolarization variables over the depolarization variables and over the conventional 12-lead ECG methods, both in the detection of prior MI and evolving ischemic injury. The QT integral, covering both depolarization and repolarization, appeared indifferent to the Q-wave status, the time elapsed from MI, or the MI or ischemia location. In the face of evolving ischemic injury the performance of the QT integral was not hampered even by underlying LVH. The examined depolarization and repolarization variables were effective when recorded in a single site, in contrast to the conventional 12-lead ECG criteria. The inverse spatial correlation of the depolarization and depolarization waves in myocardial ischemia and injury could be reduced into the QT integral variable recorded in a single site on the left flank. In conclusion, the QT integral variable, detectable in a single lead, with optimal recording site on the left flank, was able to detect prior MI and evolving ischemic injury more effectively than the conventional ECG markers. The QT integral, in a single-lead or a small number of leads, offers potential for automated screening of ischemic heart disease, acute ischemia monitoring and therapeutic decision-guiding as well as risk stratification.
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Mapping the shear wave velocity profile is an important part in seismic hazard and microzonation studies. The shear wave velocity of soil in the city of Bangalore was mapped using the Multichannel Analysis of Surface Wave (MASW) technique. An empirical relationship was found between the Standard Penetration Test (SPT) corrected N value ((N1)60cs) and measured shear wave velocity (Vs). The survey points were selected in such a way that the results represent the entire Bangalore region, covering an area of 220 km2. Fifty-eight 1-D and 20 2-D MASW surveys were performed and their velocity profiles determined. The average shear wave velocity of Bangalore soils was evaluated for depths of 5 m, 10 m, 15 m, 20 m, 25 m and 30 m. The sub-soil classification was made for seismic local site effect evaluation based on average shear wave velocity of 30-m depth (Vs30) of sites using the National Earthquake Hazards Reduction Program (NEHRP) and International Building Code (IBC) classification. Mapping clearly indicates that the depth of soil obtained from MASW closely matches with the soil layers identified in SPT bore holes. Estimation of local site effects for an earthquake requires knowledge of the dynamic properties of soil, which is usually expressed in terms of shear wave velocity. Hence, to make use of abundant SPT data available on many geotechnical projects in Bangalore, an attempt was made to develop a relationship between Vs (m/s) and (N1)60cs. The measured shear wave velocity at 38 locations close to SPT boreholes was used to generate the correlation between the corrected N values and shear wave velocity. A power fit model correlation was developed with a regression coefficient (R2) of 0.84. This relationship between shear wave velocity and corrected SPT N values correlates well with the Japan Road Association equations.
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In this paper we focus on the challenging problem of place categorization and semantic mapping on a robot with-out environment-specific training. Motivated by their ongoing success in various visual recognition tasks, we build our system upon a state-of-the-art convolutional network. We overcome its closed-set limitations by complementing the network with a series of one-vs-all classifiers that can learn to recognize new semantic classes online. Prior domain knowledge is incorporated by embedding the classification system into a Bayesian filter framework that also ensures temporal coherence. We evaluate the classification accuracy of the system on a robot that maps a variety of places on our campus in real-time. We show how semantic information can boost robotic object detection performance and how the semantic map can be used to modulate the robot’s behaviour during navigation tasks. The system is made available to the community as a ROS module.
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Social media play a prominent role in mediating issues of public concern, not only providing the stage on which public debates play out but also shaping their topics and dynamics. Building on and extending existing approaches to both issue mapping and social media analysis, this article explores ways of accounting for popular media practices and the special case of ‘born digital’ sociocultural controversies. We present a case study of the GamerGate controversy with a particular focus on a spike in activity associated with a 2015 Law and Order: SVU episode about gender-based violence and harassment in games culture that was widely interpreted as being based on events associated with GamerGate. The case highlights the importance and challenges of accounting for the cultural dynamics of digital media within and across platforms.
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This paper addresses the challenges of flood mapping using multispectral images. Quantitative flood mapping is critical for flood damage assessment and management. Remote sensing images obtained from various satellite or airborne sensors provide valuable data for this application, from which the information on the extent of flood can be extracted. However the great challenge involved in the data interpretation is to achieve more reliable flood extent mapping including both the fully inundated areas and the 'wet' areas where trees and houses are partly covered by water. This is a typical combined pure pixel and mixed pixel problem. In this paper, an extended Support Vector Machines method for spectral unmixing developed recently has been applied to generate an integrated map showing both pure pixels (fully inundated areas) and mixed pixels (trees and houses partly covered by water). The outputs were compared with the conventional mean based linear spectral mixture model, and better performance was demonstrated with a subset of Landsat ETM+ data recorded at the Daly River Basin, NT, Australia, on 3rd March, 2008, after a flood event.