Search for dissertations about: "linkage analysis"

Showing result 11 - 15 of 295 swedish dissertations containing the words linkage analysis.

  2. 11. Genetic Mapping of Susceptibility Genes for Systemic Lupus Erythematosus

    Author : Bo Johanneson; Jean Pierre Hugot; Uppsala universitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; Molecular genetics; Association analysis; Candidate gene; Complex disease; Genome scan; Linkage analysis; Mapping; Susceptibility genes; Systemic lupus erythematosus; Genetik; Genetics; Genetik; medicinsk genetik; Medical Genetics;

    Abstract : Systemic lupus erythematosus (SLE) is a complex autoimmune disease with unknown etiology. The aim of this thesis was to identify susceptibility regions through genetic mapping, using model-based linkage analysis on nuclear and extended SLE multicase families. READ MORE

  4. 12. Genetic Studies of Psoriasis and Psoriatic Arthritis

    Author : Camilla Friberg; Göteborgs universitet; []
    Keywords : psoriasis; psoriatic arthritis; complex disease; autoimmune disease; linkage analysis; association analysis; PSOR5; 3q21; 5q31-32; SLC22A4; SLC22A5; CSTA; ZNF148; expression;

    Abstract : Psoriasis and psoriatic arthritis are common chronic immune-mediated diseases of the skin and joints. Psoriasis affects approximately 2-3 % of the Caucasian population and about 30 % of all psoriasis patients develop psoriatic arthritis. READ MORE

  5. 13. Genetics of the carbohydrate-deficient glycoprotein syndrome type Ia

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

    Abstract : 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. READ MORE

  6. 14. Mapping genetic diseases in northern Sweden

    Author : Elisabet Einarsdottir; Dan Holmberg; Gösta Holmgren; Ulf Gyllensten; Umeå universitet; []
    Keywords : 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;

    Abstract : 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. READ MORE

  7. 15. Mitochondrial and chromosomal genomics in type 2 diabetes

    Author : Avinash Abhyankar; Genetik; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; adaptive evolution; nuclear-mitochondrial interaction; linkage analysis; QTL; phylogenetic analysis; congenic; type 2 diabetes; GK rat;

    Abstract : Understanding the mechanisms of complex polygenic diseases like type 2 diabetes (T2D) is as complex as their nature. Cellular processes involved in glucose homeostasis need high and reliable energy supply. Mitochondria are the major energy producers in mammalian cells. READ MORE