Search for dissertations about: "analysis of snp"

Showing result 1 - 5 of 164 swedish dissertations containing the words analysis of snp.

  2. 1. Epigenetic Dysregulations in the Brain of Human Alcoholics : Analysis of Opioid Genes

    Author : Igor Bazov; Georgy Bakalkin; Catharina Lavebratt; Uppsala universitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; neuropeptides; dynorphin; human brain; alcohol dependence; epigenetics; gene transcription;

    Abstract : Neuropeptides are special in their expression profiles restricted to neuronal subpopulations and low tissue mRNA levels. Genetic, epigenetic and transcriptional mechanisms that define spatiotemporal expression of the neuropeptide genes have utmost importance for the formation and functions of neural circuits in normal and pathological human brain. READ MORE

  4. 2. Approaches for analysis of mutations and genetic variations

    Author : Afshin Ahmadian; KTH; []
    Keywords : LOH; microsatellite; fragment analysis; DNA sequencing; pyrosequencing; cancer; mutation; variation; SNP; allele-specific extension; apyrase; TECHNOLOGY; TEKNIKVETENSKAP;

    Abstract : Detecting mutations and genomic variations is fundamental indiagnosis, isolating disease genes, association studies,functional genomics and pharmacogenomics. The objective hasbeen to use and further develop a variety of tools andtechnologies to analyze these genetic alterations andvariations. READ MORE

  5. 3. Evaluation of New Technologies for Forensic DNA Analysis

    Author : Anna-Maria Divne; Marie Allen; Joakim Lundeberg; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; STR; SNP; SIDS; mtDNA; HVI HVII SSOP linear array; minisequencing; tag arrays; Pyrosequencing; Genetik; Clinical genetics; Klinisk genetik;

    Abstract : DNA samples from crime scenes or mass disasters are often limited and degraded which limits the possibility of successful traditional STR analysis. Moreover, there is a need to decrease the turnaround time in criminal investigations. READ MORE

  6. 4. Genetic and Genomic Analysis of DNA Sequence Variation

    Author : Per Erik Lundmark; Ann-Christine Syvänen; Karl Michaelsson; Gert-Jan B. van Ommen; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; SNP; NPC1; association study; allele specific expression; tagSNP; non-coding RNA; Molecular medicine genetics and pathology ; 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

  7. 5. Analysis of Nucleotide Variations in Non-human Primates

    Author : Ann-Charlotte Rönn; Ann-Christine Syvänen; Mats Nilsson; Phillip Morin; Uppsala universitet; []
    Keywords : Molecular genetics; SNP; genotyping; primate; chimpanzee; whole genome amplification; multiple displacement amplification; minisequencing; microarray; Y-chromosome; mitochondria; Genetik;

    Abstract : Many of our closest relatives, the primates, are endangered and could be extinct in a near future. To increase the knowledge of non-human primate genomes, and at the same time acquire information on our own genomic evolution, studies using high-throughput technologies are applied, which raises the demand for large amounts of high quality DNA. READ MORE