Sökning: "genome wide scan"

Visar resultat 6 - 10 av 34 avhandlingar innehållade orden genome wide scan.

  1. 6. 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

  3. 7. The genetics of systemic lupus erythematosus : Mapping of susceptibility loci for human SLE

    Författare :Anna-Karin B. Lindqvist; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Systemic lupus erythematosus; complex diseases; genetic susceptibility; linkage analysis; genome scan; candidate gene; Genetik; Clinical genetics; Klinisk genetik; Medical Genetics; medicinsk genetik;

    Sammanfattning : Systemic lupus erythematosus (SLE) is a systemic autoimmune disease affecting organs such as skin, jointsand kidneys. Characteristic for the disease is increased production of autoantibodies, in particular against dsDNA. Previous studies of SLE in mouse models and in humans indicate polygenic inheritance and genetic heterogeneity. LÄS MER

  4. 8. Genetics of pain : studies of migraine and pain insensitivity

    Författare :Anna Norberg; Monica Holmberg; Arn van den Maagdenberg; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Migraine; pain insensitivity; susceptibility genes; genome-wide scan; linkage; polymorphism; association; HSAN V; nerve growth factor; neurite outgrowth; Medical genetics; Medicinsk genetik;

    Sammanfattning : Pain is a major public health issue throughout the world. Increased understanding of the different forms of pain and identification of susceptibility genes could contribute to improved treatments. LÄS MER

  5. 9. Clinical and genetical aspects of Celiac Disease

    Författare :Audur Gudjonsdottir; Göteborgs universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; celiac disease; sib-pair; screening; genome-wide scan; linkage analysis; heritability; genotypes; DQ2-negative; phenotypes; autoimmune disease;

    Sammanfattning : Celiac disease (CD), or gluten-sensitive enteropathy, is one of the most common chronic diseases in childhood but is diagnosed in all ages. CD is a genetically driven immunological intolerance to dietary gluten. Th e treatment is a gluten-free diet. LÄS MER

  7. 10. On the genetics of hereditary breast/ovarian cancer. BRCA1, BRCA2 and beyond

    Författare :Annika Bergman; Göteborgs universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; BRCA1; BRCA2; breast cancer; hereditary cancer; founder mutation; mutation analysis; linkage analysis; genome scan; BRCAX;

    Sammanfattning : Breast cancer is the most common malignancy in women. Most of the breast cancers are sporadic with no apparent inheritance factor but about 5-10% is believed to be caused by an inherited predisposition. Aims: This thesis aimed at defining the BRCA1/2 mutation spectrum of the west Swedish population and specifically to characterize the BRCA1c. LÄS MER