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PubMedDate not supplied

A molecular survey of phenylketonuria in Iceland: identification of a founding mutation and evidence of predominant Norse settlement.

Iceland was settled during the late 9th and early 10th centuries AD by Vikings who arrived from Norway and the British Isles. Although it is generally acknowledged that the Vikings brought with them Celtic slaves, the relative contribution of these peoples to the modern Icelandic gene pool has been a matter of considerable discussion. Most population genetic studies using classical markers have indicated a large Irish genetic contribution. We have investigated the molecular basis of phenylketonuria (PKU) in 17 Icelandic patients and found 9 different mutations in the phenylalanine hydroxylase gene. One novel mutation, Y377fsdelT, accounts for more than 40% of the mutant chromosomes. Haplotype data support a common ancestral origin of the mutation, and genealogical examination extending back more than 5 generations shows that this mutation has probably arisen in an isolated part of southern Iceland and was enriched by a founder effect. At least 7 PKU mutations have originated outside iceland. The almost exclusively Scandinavian background of these mutations and the complete absence of common Irish PKU mutations strongly support historical and linguistic evidence of a predominant Scandinavian heritage of the Icelandic people.

DNA Mutational Analysis↗
PubMed1997

Ambulatory behavior map, physical activity and biosignal monitoring system.

In this study, we have developed an ambulatory human behavior map and physical activity monitoring system. This was accomplished by equipping our portable digital biosignal memory device developed previously with GPS sensors and piezoresistive accelerometers. Using this new system, we can get a subject's behavior map, and estimate his physical activities and posture changes in daily life.

Behavior↗
PubMed1997

[Geographical informational technology as the basis for the informational integration for the large-scale evaluation of the environment].

Complex evaluation of environmental state requires processing of extensive information describing various components and objects of environment. Characteristic of this information is territory fix--each environmental object has definite geographic position and border. The authors discuss effects of up-to-date geographic information technologies on evaluation of environmental state in Bashkortostan Republic. Examples of analysis and simulation of possible changes in environmental state are given.

Bashkiria↗
PubMed1997

[Computer technology of genogeographic study of the gene pool. IV. Population in the space of principal components].

On the basis of maps of principal components ("synthetic maps"), populations were arranged in the space of principal components. In terms of the applied model, nodes of a dense, uniform grid represented human populations. For each node, the frequency of a given gene was interpolated from these values for all original populations. Principal components were estimated and mapped on the basis of maps for all genes. Each population (grid node) was assigned a marker of an ethnic or some other group of populations and was positioned in the space of principal components according to the values from the original maps. The resultant "ethnic clouds" of populations and "ethnic centroids" of principal components provide some new possibilities for explaining the patterns of changes in gene pools. The maps of reliability of principal components allow the researcher to eliminate the information on populations which is unreliable and turn to the "reliable" space of principal components. The method was tested with the use of the maps of principal components for the gene pool of the East European population. Eastern Slavonic (Russians, Ukrainians, and Belarussians) and western and eastern Finno-Ugrian (Estonians and Mordovians, respectively) ethnic groups were mapped to the space of principal components. The relative positions of the populations of these ethnic groups was analyzed in the spaces of the first and the second, the first and the third, and the second and the third principal components of the East European gene pool.

Commonwealth of Independent States↗
PubMed1998

[Computer technology for genogenographic study of the gene pool. V. Evaluation of the reliability of maps].

An important aspect of gene geography, the estimation of the reliability of interpolation maps, is considered. The introduced quantitative parameter, map reliability, was estimated as the probability of predicted character values in interpolated map regions. The obtained estimates characterize the statistic significance of the mapped values of the character. The estimation algorithm is based on concepts and mathematical methods of the reliability theory. The proposed approach involved the estimation of the reliability at each point of the mapped area and resulted in a new map (a reliability map) expressing the reliability of gene geographic mapping in probability terms. Approaches to estimate the reliability of mapping, as dependent on various parameters of the initial data, were proposed, a general computer-based technology was elaborated, and a standardized reliability scale was proposed. Reliability maps are considered necessary for the correct interpretation of gene geographic maps. The estimation of reliability as dependent on the number and distribution of initially tested populations was illustrated by the example of frequency maps of individual genes (HP*1, HLA*A1) and synthetic maps (100 alleles of 34 polymorphic loci) of Eastern Europe.

Algorithms↗
PubMed1998

2001 Census output areas: from concept to prototype.

This article describes the development of a prototype output area production system for the 2001 Census. A number of outstanding design issues concerning 2001 output areas are explained, and the implications of using a geographical information system for the management of census geography are explored.

Censuses↗
PubMed2005

GeneInfoMiner--a web server for exploring biomedical literature using batch sequence ID.

GeneInfoMiner is a web-based system for searching Medline abstracts using sequence ID lists such as GenBank accession numbers derived from high-throughput experiments. It will map query results to MeSH topics to facilitate the exploration of the biological significance of the sequence ID lists. GeneInfoMiner is based on a custom gene and protein name identification engine that can map gene and protein names to important molecular biology databases.

Abstracting and Indexing↗
PubMed2003

Topical mitomycin treatment for primary acquired melanosis of the conjunctiva.

A case of primary acquired melanosis of the conjunctiva primarily treated with topical mitomycin chemotherapy is presented. The patient underwent treatment with one 2-week course of topical mitomycin 0.02% four times daily, followed 4 weeks later by a 2-week course of topical mitomycin 0.04% four times daily, followed by a 3-month course of topical mitomycin 0.02% twice daily. Map biopsies were performed after the initial two courses of mitomycin therapy and 12 months after all courses of mitomycin treatment had been completed. Complete resolution of the conjunctival pigmentation was noted after the final course of treatment. Map biopsies performed at 12 months following completion of treatment showed normal conjunctiva histopathologically. No recurrence of pigmentation was noted in follow-up 26 months after completion of treatment. Topical mitomycin chemotherapy may be a successful primary treatment for primary acquired melanosis of the conjunctiva.

Administration, Topical↗
PubMed1989

[Cartography as an instrument in epidemiology: methodologic considerations for the new Swiss cancer atlas].

Maps not following the syntactical rules of the graphical language entail the risk of being misunderstood. Maps aim at demonstrating spatial patterns and visualizing dividing lines. Representation of tabular values is not a principal goal. Maps should be "seen" as a whole, not be "read" element by element. Some technical aspects of cartography are discussed (distortion of information, grouping of data, adequacy and use of colour). The guidelines for the new Swiss cancer atlas are based on these general principles. A continuous-shading technique avoiding class intervals is being used. It allows the combination of maps and diagrams of different aggregations of the same data using a common shading scale. Indications of significance are integrated into all figures. Geographical maps are enriched by diagrams showing data for 9 cities, 5 language regions, for a grouping by size of community and for a socioeconomical classification of regions. The universal shading scale enables to compare the figures separately and crossways. Relationships not apparent in a traditional map might be revealed.

Atlases as Topic↗
PubMed2002

Mapping bovine tuberculosis in Great Britain using environmental data.

The incidence of bovine tuberculosis (BTB) is increasing in Great Britain, exacerbated by the temporary suspension of herd testing in 2001 for fear of spreading the much more contagious foot and mouth disease. The transmission pathways of BTB remain poorly understood. Current hypotheses suggest the disease is introduced into susceptible herds from a wildlife reservoir (principally the Eurasian Badger) and/or from cattle purchased from infected areas, while the role of climatic factors in transmission has generally been ignored. Here, we show how remotely sensed satellite data, which provide good indicators of a variety of climatic factors, can be used to describe the distribution of BTB in Great Britain in 1997, and suggest how such data could be used to produce BTB risk maps for the future.

Animals↗
PubMed2002

Third international meeting on the genetic epidemiology of complex traits, April 4-6, 2002, Cambridge, UK.

The Third International Meeting on the Genetic Epidemiology of Complex Traits was held at Churchill College, Cambridge, UK on April 4-6, 2002. The event was organized by the Twin Research and Genetic Epidemiology Unit, St Thomas' Hospital, London and sponsored by Roche Genetics and Insightful. It provided an interactive forum for discussion of topical issues relating to the genetic analysis of complex diseases and traits. Topics discussed included linkage disequilibrium mapping and candidate gene analysis, as well as cutting edge advances in both technologies and statistical analysis methods. Details of the meeting can be found at http://www.twin-research.ac.uk/.

Chromosome Mapping↗
PubMed2006

QTL analysis of cadmium and zinc accumulation in the heavy metal hyperaccumulator Thlaspi caerulescens.

Thlaspi caerulescens (Tc; 2n = 14) is a natural Zn, Cd and Ni hyperaccumulator species belonging to the Brassicaceae family. It shares 88% DNA identity in the coding regions with Arabidopsis thaliana (At) (Rigola et al. 2006). Although the physiology of heavy metal (hyper)accumulation has been intensively studied, the molecular genetics are still largely unexplored. We address this topic by constructing a genetic map based on AFLP markers and expressed sequence tags (ESTs). To establish a genetic map, an F(2) population of 129 individuals was generated from a cross between a plant from a Pb/Cd/Zn-contaminated site near La Calamine, Belgium, and a plant from a comparable site near Ganges (GA), France. These two accessions show different degrees of Zn and, particularly, Cd accumulation. We analyzed 181 AFLP markers (of which 4 co-dominant) and 13 co-dominant EST sequences-based markers and mapped them to seven linkage groups (LGs), presumably corresponding to the seven chromosomes of T. caerulescens. The total length of the genetic map is 496 cM with an average density of one marker every 2.5 cM. This map was used for Quantitative Trait Locus (QTL) mapping in the F(2). For Zn as well as Cd concentration in root we mapped two QTLs. Three QTLs and one QTL were mapped for Zn and Cd concentration in shoot, respectively. These QTLs explain 23.8-60.4% of the total variance of the traits measured. We found only one common locus (LG6) for Zn and Cd (concentration in root) and one common locus for shoot and root concentrations of Zn (LG1) and of Cd (LG3). For all QTLs, the GA allele increased the trait value except for two QTLs for Zn accumulation in shoot (LG1 and LG4) and one for Zn concentration in root (LG1).

Cadmium↗