Sökning: "linkage disequilibrium"

Visar resultat 1 - 5 av 81 avhandlingar innehållade orden linkage disequilibrium.

  1. 1. Genetics of the carbohydrate-deficient glycoprotein syndrome type Ia

    Författare :Cecilia Bjursell; Göteborgs universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; CDG Ia; PMM2; chromosome 16; linkage; linkage disequilibrium; prenatal diagnosis;

    Sammanfattning : In recent years, a revolution in the development of new techniques have made it possible to perform genetic studies of inherited disorders without prior knowledge about the gene product or the function of the gene. The techniques include linkage studies, allelic association studies, physical mapping and the sequencing of candidate genes for finding disease causing mutations. LÄS MER

  3. 2. A multivariate approach to computational molecular biology

    Författare :Fredrik Pettersson; Michael Sjöström; Umeå universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; PLS; PCA; biomarker; Drosophila; SNP; linkage; disequilibrium; bioinformatics; computational; molecular; biology; genomics; microarray; SELDI; proteomics; Bioinformatics; Bioinformatik;

    Sammanfattning : This thesis describes the application of multivariate methods in analyses of genomic DNA sequences, gene expression and protein synthesis, which represent each of the steps in the central dogma of biology. The recent finalisation of large sequencing projects has given us a definable core of genetic data and large-scale methods for the dynamic quantification of gene expression and protein synthesis. LÄS MER

  4. 3. Mapping genetic diseases in northern Sweden

    Författare :Elisabet Einarsdottir; Dan Holmberg; Gösta Holmgren; Ulf Gyllensten; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; isolated populations; linkage disequilibrium; linkage analysis; genome-wide scan; hereditary sensory and autonomic neuropathy; type 1 diabetes mellitus; type 2 diabetes mellitus; autoimmune thyroid disease; Genetik; Clinical genetics; Klinisk genetik; medicinsk genetik; Medical Genetics;

    Sammanfattning : The population of northern Sweden has previously been shown to be well suited for the mapping of monogenic diseases. In this thesis we have tested the hypothesis that this population could also be used for efficient identification of risk genes for common diseases. LÄS MER

  5. 4. Genetic linkage and association studies in celiac disease: discoveries from whole genome analysis

    Författare :Svetlana Adamovic; Göteborgs universitet; []
    Nyckelord :Celiac Disease; genome-wide scan; linkage; association; GWAS; complex disease; autoimmune; 5q31-33; HLA; IL2 IL21;

    Sammanfattning : Celiac Disease (CD) or Gluten Sensitive Enteropathy (GSE) is a life-long disorder. It is characterized by inflammation in the small intestine of genetically predisposed individuals caused by inappropriate immune response to gluten, a protein enriched in some of our common grains (wheat, rye and barley). LÄS MER

  7. 5. The Genetics of Systemic Lupus Erythematosus : The Specificity of IRF5 to SLE

    Författare :MV Prasad Linga Reddy; Marta Alarcön Riquelme; Dan Holmberg; Uppsala universitet; []
    Nyckelord :Molecular genetics; Systemic lupus erythematosus; Interferon regulatory factor 5; Transmission-Disequilibrium Test; Family-based association test; Linkage Disequilibrium; Hardy-Weinberg equilibrium; Genetik;

    Sammanfattning : The breakdown of self-tolerance is the main driving force behind susceptibility to SLE. When this occurs, T and B cells are activated in an uncontrolled manner and produce autoantibodies against self fragmented DNA, RNA and sometimes other parts of the cell such as cardiolipin, phosphatidylserine, etc. LÄS MER