Search for dissertations about: "genotyping"

Showing result 1 - 5 of 233 swedish dissertations containing the word genotyping.

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

    University dissertation from Malmö University. Faculty of Health and Society

    Author : Ewa Lavant; [2012]
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; HLA-DRB1; HLA-DQB1; HLA-DQA1; PCR-SSP; type 1 diabetes; celiac disease; autoimmune disease; capillary gel electrophoresis; genotyping;

    Abstract : 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. READ MORE

  2. 2. Microarray Technology for Genotyping in Pharmacogenetics

    University dissertation from Uppsala : Acta Universitatis Upsaliensis

    Author : Ulrika Liljedahl; Ann-Christine Syvänen; Denis Grant; [2004]
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Molecular medicine; microarray; genotyping; pharmacogenetics; molecular medicine; single nucleotide polymorphism; hypertension; Molekylärmedicin; MEDICINE Dermatology and venerology; clinical genetics; internal medicine Internal medicine Molecular medicine genetics and pathology ; MEDICIN Dermatologi och venerologi; klinisk genetik; invärtesmedicin Invärtesmedicin Molekylär medicin genetik och patologi ;

    Abstract : 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. READ MORE

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

    University dissertation from Uppsala : Acta Universitatis Upsaliensis

    Author : Ida Grundberg; Mats Nilsson; Ulf Landegren; Olli-Pekka Kallioniemi; [2011]
    Keywords : 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; MEDICINE Dermatology and venerology; clinical genetics; internal medicine Internal medicine Molecular medicine genetics and pathology ; MEDICIN Dermatologi och venerologi; klinisk genetik; invärtesmedicin Invärtesmedicin Molekylär medicin genetik och patologi ; Molekylär medicin; Molecular Medicine;

    Abstract : 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. READ MORE

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

    University dissertation from Uppsala : Acta Universitatis Upsaliensis

    Author : Snaevar Sigurdsson; Ann-Christine Syvänen; Timothy Behrens; [2006]
    Keywords : Molecular medicine; Minisequencing; SNP; Microarray; Polymorphism; Mitochondria; Systemic Lupus Erythematosus; Rheumatoid Arthritis; Association study; Type I interferon; Genotyping; Molekylärmedicin;

    Abstract : 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. READ MORE

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

    University dissertation from Uppsala : Acta Universitatis Upsaliensis

    Author : Ann-Charlotte Rönn; Uppsala universitet.; [2007]
    Keywords : Molecular genetics; SNP; genotyping; primate; chimpanzee; whole genome amplification; multiple displacement amplification; minisequencing; microarray; Y-chromosome; mitochondria; Genetik;

    Abstract : 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. READ MORE