Sökning: "sequence variants"

Visar resultat 1 - 5 av 230 avhandlingar innehållade orden sequence variants.

  1. 1. DNA Sequence Variants in Human Autoimmune Diseases

    Författare :Chuan Wang; Ann-Christine Syvänen; Anna Lobell; Jeffrey C. Barrett; Uppsala universitet; []
    Nyckelord :Association study; Gene resequencing; ChIP-seq; Type I interferon system; Systemic lupus erythematosus; Rheumatoid arthritis; Asthma; Medicinsk genetik; Medical Genetics; Molekylär genetik; Molecular Genetics;

    Sammanfattning : Human autoimmune diseases are hallmarked by inappropriate loss-of-tolerance and self-attacking response of the immune system. Studies included in this thesis are focusing on the implication and functional impact of genetic factors in three autoimmune diseases rheumatoid arthritis (RA), asthma, and systemic lupus erythematosus (SLE). LÄS MER

  3. 2. Padlock probes : Circularizing oligonucleotides for localized detection of DNA sequence variants

    Författare :Mats Nilsson; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Genetik; Clinical genetics; Klinisk genetik; Medical Genetics; medicinsk genetik;

    Sammanfattning : Present techniques for localized detection of DNA sequence variants have limitations due to problems with sensitivity, specificity, signal localization or ability to perform many analyses simultaneously.In this study a novel gene analytic reagent is presented - the padlock probe. LÄS MER

  4. 3. Quantitative analysis of disease associated mutations and sequence variants

    Författare :Charlotta Olsson; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Kvantifiering; PCR-metoder; SNP; mutation; Genetik; Clinical genetics; Klinisk genetik; Molecular Medicine; molekylär medicin genetik och patologi ;

    Sammanfattning : A solid-phase sequencing technique was applied to quantify the mitochondrial A3243G mutation in three families with maternally inherited diabetes and deafness. A correlation between the level of heteroplasmy and age at onset was found. LÄS MER

  5. 4. Long QT syndrome in Sweden : founder effects and associated cardiac phenotypes

    Författare :Annika Winbo; Annika Rydberg; Eric Schulze-Bahr; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Long QT Syndrome; Jervell and Lange-Nielsen Syndrome; inherited arrhythmia; founder effects; clinical genetics; haplotype analysis; mutation age; founder mutation; clinical phenotype; life-threatening cardiac events; mutation-specific; KCNQ1 gene; modifier genes; sequence variants; risk stratification; risk factor; gender; pediatrik; Pediatrics;

    Sammanfattning : Background: We aimed to increase the knowledge regarding the familial arrhythmogenic disorder Long QT Syndrome (LQTS) and its recessive variant Jervell and Lange-Nielsen Syndrome (JLNS) in Sweden, including prevalences and clinical phenotypes. A specific focus was directed towards two KCNQ1 mutations –p.Y111C and p. LÄS MER

  7. 5. Experimental and computational exploration of enzyme sequence space

    Författare :Elzbieta Rembeza; Chalmers tekniska högskola; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; high-throughput-screening; protein annotation; enzyme discovery; enzyme sequence space; oxidases;

    Sammanfattning : Millions of enzymes with desirable features or new exciting activities can be found in organisms occupying diverse niches all around the earth. However, enzyme studies tend to be biased towards characterisation of representatives from eukaryotes, model organisms, or disease-causing bacteria. LÄS MER