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Genetisk rådgivning : risker, ansvar och individuell autonomi

Genetisk rådgivning (vägledning) etablerades inom svensk sjukvård under 1960- och 1970-talet. Samtidigt stärktes föreställningen om individens självbestämmande i reproduktiva frågor, en uppfattning som hade börjat formuleras redan under 1950-talet. I artikeln diskuteras hur den genetiska rådgivningen som tidigare baserats på empiriska riskberäkningar under 1960- och 1970-talet fick en delvis annanGenetic counseling was established within the Swedish healthcare system in the 1960s and 1970s. During this period the idea of individual autonomy, which had been introduced into genetic counseling already in the 1950s, was gradually strengthened. The paper discusses the development of medical knowledge and technologies related to heredity during this period, from empi-rical risk calculations to t

Biological citizenship in relation to medical counseling and medical genetics : examples from Sweden 1940-1980

Our presentation builds on a research project on the emergence of medical genetics and genetic counselling in Sweden 1940-1980. During our study, we have been able to track some aspects of biological, or eugenic, citizenship throughout this period.In Sweden, a rudimentary form of genetic counselling can be tracked within the context of state-controlled eugenics, namely in some applications of the Our presentation builds on a research project on the emergence of medical genetics and genetic counselling in Sweden 1940-1980. During our study, we have been able to track some aspects of biological, or eugenic, citizenship throughout this period.In Sweden, a rudimentary form of genetic counselling can be tracked within the context of state-controlled eugenics, namely in some applications of the

Science policy on medical genetics : Knowledge and values of human heredity in the Swedish Welfare State

Interest in human heredity has a long history in Sweden. In the 1920s the Parliament decided on a State institute for race biology and in the 1930s a sterilization legislation that put eugenics into practice was enacted. During the postwar decades both research and the political-medical practices were successively transformed: medical genetics became established and proclaimed as a new research fiInterest in human heredity has a long history in Sweden. In the 1920s the Parliament decided on a State institute for race biology and in the 1930s a sterilization legislation that put eugenics into practice was enacted. During the postwar decades both research and the political-medical practices were successively transformed: medical genetics became established and proclaimed as a new research fi

Development of genetic counseling in Sweden 1950-1980

The development of genetic counseling in Sweden in the field of medical genetics emerged in the 1950s, at the department of medical genetics at Uppsala University. The head of department, Jan Arvid Böök, a member of the WHO expert committee on Human Genetics, early realized the importance of studies in broadly distributed genetic diseases, along with genetic counseling. In the 1950s, at the same tThe development of genetic counseling in Sweden in the field of medical genetics emerged in the 1950s, at the department of medical genetics at Uppsala University. The head of department, Jan Arvid Böök, a member of the WHO expert committee on Human Genetics, early realized the importance of studies in broadly distributed genetic diseases, along with genetic counseling. In the 1950s, at the same t

Why do dogs play? Function and welfare implications of play in the domestic dog

Play is an enigmatic behaviour, the function of which is still debated, despite more than a century of research. We discuss the evolutionary function of play behaviour, focusing on the domestic dog (Canis familiaris), a unique species due to its past domestication and current cohabitation with humans. The ultimate function of play in dogs is explored through four main theories: 1) developing motor

The role of regional context on innovation persistency of firms

This paper analyses the role of regional context on innovation persistency of firms. Using the Community Innovation Survey in Sweden, we have traced firms' innovative behaviour from 2002 to 2012, in terms of four Schumpeterian types of innovation: product, process, organizational, and marketing. Controlling for an extensive set of firm-level characteristics, we find that certain regional character

Binding patterns of BCL11A in the globin and GATA1 loci and characterization of the BCL11A fetal hemoglobin locus

BCL11A is a major regulator of fetal hemoglobin production. Reduced levels of BCL11A have been shown to delay switching from fetal to adult hemoglobin, suggesting that it acts as a stage-specific repressor of gamma globin expression. We have carried out a survey of BCL11A binding in the globin, BCL11A and GATA1 loci by ChIP-on-chip analysis in primary human erythroid cells. We found strong occupan

Intergenic variants of HBS1L-MYB are responsible for a major quantitative trait locus on chromosome 6q23 influencing fetal hemoglobin levels in adults

Individual variation in fetal hemoglobin (HbF, alpha(2)gamma(2)) response underlies the remarkable diversity in phenotypic severity of sickle cell disease and beta thalassemia. HbF levels and HbF-associated quantitative traits (e.g., F cell levels) are highly heritable. We have previously mapped a major quantitative trait locus (QTL) controlling F cell levels in an extended Asian-Indian kindred wi

The HBS1L-MYB intergenic interval associated with elevated HbF levels shows characteristics of a distal regulatory region in erythroid cells

HBS1L-MYB intergenic polymorphism (HMIP) on chromosome 6q23 is associated with elevated fetal hemoglobin levels and has pleiotropic effects on several hematologic parameters. To investigate potential regulatory activity in the region, we have measured sensitivity of the sequences to DNase I cleavage that identified 3 tissue-specific DNase I hypersensitive sites in the core intergenic interval. Chr