Sökning: "single nucleotide polymorphisms"
Visar resultat 16 - 20 av 220 avhandlingar innehållade orden single nucleotide polymorphisms.
16. Early diagnosis and treatment of prostate cancer : observational studies in the National Prostate Cancer Register of Sweden and the Västerbotten Intervention Project
Sammanfattning : Prostate-specific antigen (PSA) testing has caused a steep increase in the incidence of prostate cancer, especially the incidence of localised low risk disease. In order to decrease the overdiagnosis accompanied by PSA testing, analysis of inherited genetic variants have been suggested as potential tools for clinical assessment of disease risk. LÄS MER
17. Beta Cell Function: from Human Genetics to Animal Models
Sammanfattning : Beta cell function is an important factor in the development of both Type 1 (T1D) and Type 2 (T2D) diabetes mellitus. T1D is characterized by a primary defect in insulin secretion due to the immune-mediated beta cell destruction, however, the more common T2D beside insulin resistance also include impaired beta cell function as a consequence to abnormal glucose homeostasis. LÄS MER
18. Microarray Technology for Genotyping in Pharmacogenetics
Sammanfattning : The studies in this thesis describe the development of a microarray based minisequencing system and its application to highly parallel genotyping of single nucleotide polymorphisms. The technical developments included identification of a three-dimensional microarray surface coating with high binding capacity for oligonucleotides modified with amino groups as the most optimal one for the system. LÄS MER
19. Genetics and the Origin of Two Flycatcher Species
Sammanfattning : In this thesis, different genetic tools are used to investigate pre- and postzygotic barriers to gene exchange and their role in speciation in the pied flycatcher (Ficedula hypoleuca) and the collared flycatcher (F. albicollis). This species complex consists of four genetically distinct clades that apparently diverged in allopatry (I). LÄS MER
20. Clinical and Experimental Studies in Primary Sjögren’s Syndrome and Systemic Lupus Erythematosus
Sammanfattning : Autoimmune mechanisms and genetic susceptibility contribute to the pathogenesis of primary Sjögren’s syndrome and SLE. These chronic systemic autoimmune diseases have many serological and clinical features in common and have an impact on daily life. LÄS MER