Sökning: "genotyping"

Visar resultat 1 - 5 av 238 avhandlingar innehållade ordet genotyping.

  1. 1. Multiplex HLA-DR-DQ genotyping : for genetic epidemiology and clinical risk assessment

    Författare :Ewa Lavant; Malmö högskola; []
    Nyckelord :HLA-DRB1; HLA-DQB1; HLA-DQA1; PCR-SSP; type 1 diabetes; celiac disease; autoimmune disease; capillary gel electrophoresis; genotyping;

    Sammanfattning : The human leukocyte antigens (HLA) are highly polymorphic cell surface proteins encoded in the major histocompatibility complex (MHC) region on chromosome 6. The HLA system has been well known as transplantation antigens but the primary biological role of the HLA molecules is regulation of immune response by presenting peptide fragments to T-lymphocytes. LÄS MER

  2. 2. Genotyping and Mutation Detection In Situ : Development and application of single-molecule techniques

    Författare :Ida Grundberg; Mats Nilsson; Ulf Landegren; Olli-Pekka Kallioniemi; Uppsala universitet; []
    Nyckelord :MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; padlock probes; in situ; rolling circle amplification; mRNA; genotyping; mutation detection; cancer; tissue sections; diagnostics; single-molecule; single-cell; microscopy; Molecular medicine genetics and pathology ; Molekylär medicin genetik och patologi ; Molekylär medicin; Molecular Medicine;

    Sammanfattning : The human body is composed of trillions of cells closely working together to maintain a functional organism. Every cell is unique in molecular composition and can acquire genetic variations that might cause it to turn pathological. LÄS MER

  3. 3. Microarray Technology for Genotyping in Pharmacogenetics

    Författare :Ulrika Liljedahl; Ann-Christine Syvänen; Denis Grant; Uppsala universitet; []
    Nyckelord :MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; 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. 4. 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

  5. 5. Analysis of Nucleotide Variations in Non-human Primates

    Författare :Ann-Charlotte Rönn; Ann-Christine Syvänen; Mats Nilsson; Phillip Morin; Uppsala universitet; []
    Nyckelord :Molecular genetics; SNP; genotyping; primate; chimpanzee; whole genome amplification; multiple displacement amplification; minisequencing; microarray; Y-chromosome; mitochondria; Genetik;

    Sammanfattning : Many of our closest relatives, the primates, are endangered and could be extinct in a near future. To increase the knowledge of non-human primate genomes, and at the same time acquire information on our own genomic evolution, studies using high-throughput technologies are applied, which raises the demand for large amounts of high quality DNA. LÄS MER