Search for dissertations about: "regulatory SNP"

Showing result 1 - 5 of 35 swedish dissertations containing the words regulatory SNP.

  1. 1. Computational and experimental approaches to regulatory genetic variation

    University dissertation from Stockholm : Bioteknologi

    Author : Malin Andersen; Jacob Odeberg; John Peden; [2007]
    Keywords : TEKNIK OCH TEKNOLOGIER; ENGINEERING AND TECHNOLOGY; Molecular biology; Genetics; single nucleotide polymprhism SNP ; regulatory SNP; transcription factor binding site; phylogenetic footprinting; allelic imbalance; EMSA; CD36; cardiovascular disease.; TECHNOLOGY Bioengineering Genetic engineering including functional genomics; TEKNIKVETENSKAP Bioteknik Genteknik inkl. funktionsgenomik;

    Abstract : Genetic variation is a strong risk factor for many human diseases, including diabetes, cancer, cardiovascular disease, depression, autoimmunity and asthma. Most of the disease genes identified so far alter the amino acid sequences of encoded proteins. READ MORE

  2. 2. Genetic and Genomic Analysis of DNA Sequence Variation

    University dissertation from Uppsala : Acta Universitatis Upsaliensis

    Author : Per Erik Lundmark; Ann-Christine Syvänen; Karl Michaelsson; Gert-Jan B. van Ommen; [2011]
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; SNP; NPC1; association study; allele specific expression; tagSNP; non-coding RNA; 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 studies in this thesis describe the application of genotyping and allele specific expression analysis to genetic studies. The role of the gene NPC1 in Triglyceride metabolism was explored in mouse models and in humans on the population level in study I. READ MORE

  3. 3. 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

  4. 4. Studies on the genetic basis of Pk, P and P1 blood group antigen expression

    University dissertation from Department of Laboratory Medicine, Lund University

    Author : Åsa Hellberg; [2007]
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Immunologi; serology; serologi; transplantation; Immunology; SNP; phenotype; erythrocyte; blood group; glycosyltransferase;

    Abstract : The clinically important carbohydrate P/GLOB blood group systems and collection give rise to both common (P1, P2) and rare (p, P1k, P2k) blood group phenotypes. The associated antibodies are implicated in severe transfusion reactions and recurrent spontaneous abortions. READ MORE

  5. 5. A multivariate approach to computational molecular biology

    University dissertation from Umeå : Kemi

    Author : Fredrik Pettersson; Michael Sjöström; [2005]
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; PLS; PCA; biomarker; Drosophila; SNP; linkage; disequilibrium; bioinformatics; computational; molecular; biology; genomics; microarray; SELDI; proteomics; NATURAL SCIENCES Chemistry Theoretical chemistry Bioinformatics; NATURVETENSKAP Kemi Teoretisk kemi Bioinformatik;

    Abstract : This thesis describes the application of multivariate methods in analyses of genomic DNA sequences, gene expression and protein synthesis, which represent each of the steps in the central dogma of biology. The recent finalisation of large sequencing projects has given us a definable core of genetic data and large-scale methods for the dynamic quantification of gene expression and protein synthesis. READ MORE