Sökning: "single nucleotide polymorphism"

Visar resultat 1 - 5 av 177 avhandlingar innehållade orden single nucleotide polymorphism.

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

    Detta är en avhandling från Uppsala : Acta Universitatis Upsaliensis

    Författare :Johanna K Sandling; Uppsala universitet.; [2010]
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Systemic lupus erythematosus; Multiple Sclerosis; Association study; Type I interferon system; Single nucleotide polymorphism; 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;

    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

    Detta är en avhandling från Department of Clinical Sciences, Lund University

    Författare :Kristina Lundin; Lund University.; Lunds universitet.; [2007]
    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

    Detta är en avhandling från Lund University: Faculty of Medicine

    Författare :Tibor V Varga; Lund University.; Lunds universitet.; Lund University.; Lunds universitet.; [2016]
    Nyckelord :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

    Detta är en avhandling från Stockholm : The Wenner-Gren Institute, Stockholm University

    Författare :Nnaemeka C. Iriemenam; Stockholms universitet.; [2009]
    Nyckelord :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; MEDICINE Microbiology; immunology; infectious diseases Immunology; MEDICIN Mikrobiologi; immunologi; infektionssjukdomar 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

    Detta är en avhandling från Stockholm : The Wenner-Gren Institute, Stockholm University

    Författare :Patrik L. Ståhl; KTH.; [2010]
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; array; sequence capture; genotyping; trinucleotide threading; sequencing; massively parallel sequencing; single molecule sequencing; Visual DNA; p53; single nucleotide polymorphism; biomarker; NATURAL SCIENCES Biology Cell and molecular biology Genetics; NATURVETENSKAP Biologi Cell- och molekylärbiologi 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