Sökning: "Single nucleotide polymorphism"

Visar resultat 1 - 5 av 182 avhandlingar innehållade orden Single nucleotide polymorphism.

  1. 1. Genetic Analyses of Multiple Sclerosis and Systemic Lupus Erythematosus : From Single Markers to Genome-Wide Data

    Författare :Johanna K Sandling; Ann-Christine Syvänen; Lovisa Lovmar; Joseph Terwilliger; Javier Martín Ibáñez; Uppsala universitet; []
    Nyckelord :MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Systemic lupus erythematosus; Multiple Sclerosis; Association study; Type I interferon system; Single nucleotide polymorphism; Molecular medicine genetics and pathology ; Molekylär medicin genetik och patologi ; Molekylär medicin; Molecular Medicine;

    Sammanfattning : In autoimmune diseases an individual’s immune system becomes targeted at the body’s own healthy cells. The aim of this thesis was to identify genetic risk factors for the two autoimmune diseases multiple sclerosis (MS) and systemic lupus erythematosus (SLE). LÄS MER

  2. 2. THE ANDROGEN RECEPTOR GGN POLYMORPHISM. Genetic and functional analyses

    Författare :Kristina Lundin; Avdelningen för klinisk genetik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Medicine human and vertebrates ; Functional domain; Genetic predisposition; Reproductive function; Sex hormone; Transactivation function; Repeat; Polymorphism; Androgen receptor; Transcription factor; Medicin människa och djur ; Endocrinology; secreting systems; diabetology; Endokrinologi; sekretion; diabetologi;

    Sammanfattning : Male sex development and reproductive function is regulated by androgens acting via the androgen receptor (AR). The AR harbours two polymorphic repeats of CAG and GGN triplets, encoding glutamines and glycines, respectively. LÄS MER

  3. 3. Genetic Determinants of Dyslipidemia

    Författare :Tibor V Varga; Genetisk och molekylär epidemiologi; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetic epidemiology; Genetic polymorphism; dyslipidaemia; Cholesterol; Triglyceride; Genetic risk; genetic risk score; Single nucleotide polymorphism; Prediction; Gene-environment interactions; Randomized controlled trial; prospective cohort studies; Observational study; GLACIER Study; Diabetes Prevention Program;

    Sammanfattning : Dyslipidemia is a chronic deviation from normal blood lipid levels that can lead to atherosclerosis and other cardiovascular diseases; dyslipidemia and its sequelae are caused by the complex interplay of genetic and environmental factors. Although circulating concentrations of total cholesterol (TC), triglycerides (TG), low-density lipoprotein cholesterol (LDL-C) and high-density lipoprotein cholesterol (LDL-C) have a strong genetic underpinning, not much is known about the genetic factors that affect long-term deteriorations in lipid concentrations. LÄS MER

  4. 4. Antibody responses and Fc gamma receptor IIa polymorphism in relation to Plasmodium falciparum malaria

    Författare :Nnaemeka C. Iriemenam; Klavs Berzins; Marita Troye-Blomberg; Philippe Deloron; Stockholms universitet; []
    Nyckelord :MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; malaria; Plasmodium falciparum; blood-stage; antibodies; antigens; logistic models; risk factors; age factors; merozoites; IgG subclasses; Fc gamma RIIa; single nucleotide polymorphism; ethnicity; endemicity; disease susceptibility; Immunology; Immunologi; immunologi; Immunology;

    Sammanfattning : Immunity to asexual blood-stage of Plasmodium falciparum malaria is believed to be associated with protective antibodies of certain immunoglobulin classes and subclasses. This thesis addressed the importance of antibodies in relation to malaria infection and their effective interactions with Fc gamma receptor IIa (FcyRIIa) polymorphisms. LÄS MER

  5. 5. Methods for Analyzing Genomes

    Författare :Patrik L. Ståhl; Joakim Lundeberg; Ivo Gut; KTH; []
    Nyckelord :NATURAL SCIENCES; NATURVETENSKAP; NATURVETENSKAP; NATURAL SCIENCES; array; sequence capture; genotyping; trinucleotide threading; sequencing; massively parallel sequencing; single molecule sequencing; Visual DNA; p53; single nucleotide polymorphism; biomarker; Genetics; Genetik;

    Sammanfattning : The human genome reference sequence has given us a two‐dimensional blueprint of our inherited code of life, but we need to employ modern‐day technology to expand our knowledge into a third dimension. Inter‐individual and intra‐individual variation has been shown to be larger than anticipated, and the mode of genetic regulation more complex. LÄS MER