Sökning: "single nucleotide polymorphism SNP"

Visar resultat 1 - 5 av 111 avhandlingar innehållade orden single nucleotide polymorphism SNP.

  1. 1. Microfluidic bead-based methods for DNA analysis

    Författare :Aman Russom; Ulf Gyllensten; KTH; []
    Nyckelord :MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; single nucleotide polymorphism; DNA analysis; SNP; microfluidics; pyrosequencing; beads; lab on a chip; hybridization; DASH; microsystem; micro totat analysis system; allele-specific extension; DASH; microcontact printing; Genetik; Clinical genetics; Klinisk genetik;

    Sammanfattning : With the completion of the human genome sequencing project, attention is currently shifting toward understanding how genetic variation, such as single nucleotide polymorphism (SNP), leads to disease. To identify, understand, and control biological mechanisms of living organisms, the enormous amounts of accumulated sequence information must be coupled to faster, cheaper, and more powerful technologies for DNA, RNA, and protein analysis. LÄS MER

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

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

    Sammanfattning : 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. LÄS MER

  3. 3. Computational approaches for in-depth analysis of cDNA sequence tags

    Författare :Per Unneberg; Joakim Lundberg; Leif Andersson; KTH; []
    Nyckelord :ENGINEERING AND TECHNOLOGY; TEKNIK OCH TEKNOLOGIER; Biotechnology; cDNA; EST; gene expression; SNP; SAGE; polymorphism; Bioteknik; Bioengineering; Bioteknik;

    Sammanfattning : Major recent improvements in biotechnology have led to an accelerated production of DNA sequences. The completion of the human genome sequence, along with the genomes of more than two hundred other species, has marked the arrival of the genome era. The ultimate goal is to understand the structure and function of genomes and their genes. LÄS MER

  4. 4. Beta Cell Function: from Human Genetics to Animal Models

    Författare :Martins Kalis; Diabetes - immunovirologi; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; animal model; Dicer1; genetics; genetic association; single nucleotide polymorphism; SNP; INS-1E; AAT; FOXP3; beta cell function; insulin secretion; FFAR1; insulin; T2D; glucose; T1D;

    Sammanfattning : Beta cell function is an important factor in the development of both Type 1 (T1D) and Type 2 (T2D) diabetes mellitus. T1D is characterized by a primary defect in insulin secretion due to the immune-mediated beta cell destruction, however, the more common T2D beside insulin resistance also include impaired beta cell function as a consequence to abnormal glucose homeostasis. LÄS MER

  5. 5. Genomic strategies towards the dissection of human complex disease

    Författare :Tesfai Emahazion; Uppsala universitet; []
    Nyckelord :MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Mapping; complex disease; polymorphism; SNP; association analysis; Alzheimer s disease; oxidative phosphorylation; apoptosis; Genetik; Clinical genetics; Klinisk genetik; Medical Genetics; medicinsk genetik;

    Sammanfattning : Complex diseases are caused by the activities of many genes acting in concert with environmental factors. A major challenge facing human genetic research is to unravel the genetic factors behind complex disorders. LÄS MER