Sökning: "Single nucleotide polymorphism"

Visar resultat 26 - 30 av 194 avhandlingar innehållade orden Single nucleotide polymorphism.

1. 26. Beta Cell Function: from Human Genetics to Animal Models

   Författare :Martins Kalis; Diabetes - immunovirologi; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; animal model; Dicer1; genetics; genetic association; single nucleotide polymorphism; SNP; INS-1E; AAT; FOXP3; beta cell function; insulin secretion; FFAR1; insulin; T2D; glucose; T1D;

   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

3. 27. Microarray Technology for Genotyping in Pharmacogenetics

   Författare :Ulrika Liljedahl; Ann-Christine Syvänen; Denis Grant; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Molecular medicine; microarray; genotyping; pharmacogenetics; molecular medicine; single nucleotide polymorphism; hypertension; Molekylärmedicin; Molecular medicine genetics and pathology ; Molekylär medicin genetik och patologi ;

   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

4. 28. Genetics and the Origin of Two Flycatcher Species

   Författare :Thomas Borge; Glenn-Peter Saetre; Staffan Bensch; Uppsala universitet; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Biology; reinforcement; reproductive isolation; Z chromosome; hybridization; mate-choice; single nucleotide polymorphism; sequence variation; sexual selection; recombination; Biologi; Biology; Biologi;

   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

5. 29. Clinical and Experimental Studies in Primary Sjögren’s Syndrome and Systemic Lupus Erythematosus

   Författare :Gunnel Nordmark; Lars Rönnblom; Olle Kämpe; Ola Winqvist; Lennart Jacobsson; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Medicine; Sjögren’s syndrome; SLE; α-fodrin; interferon-α; single nucleotide polymorphism; dehydroepiandrosterone; Medicin; Dermatology and venerology; clinical genetics; internal medicine; Dermatologi och venerologi; klinisk genetik; invärtesmedicin;

   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

7. 30. Large-Scale Genotyping for Analysis of the Type I Interferon System in Autoimmune Diseases

   Författare :Snaevar Sigurdsson; Ann-Christine Syvänen; Timothy Behrens; Uppsala universitet; []
   Nyckelord :Molecular medicine; Minisequencing; SNP; Microarray; Polymorphism; Mitochondria; Systemic Lupus Erythematosus; Rheumatoid Arthritis; Association study; Type I interferon; Genotyping; Molekylärmedicin;

   Sammanfattning : Single nucleotide polymorphisms (SNPs) are the most common form of genetic variation. We developed a novel multiplexed method for SNP genotyping based on four-color fluorophore tag-microarray minisequencing. This method allows simultaneous genotyping of 80 samples and up to 200 SNPs in any allele combination. LÄS MER