Search for dissertations about: "single nucleotide polymorphism"

Showing result 11 - 15 of 194 swedish dissertations containing the words single nucleotide polymorphism.

2. 11. Prognostic Markers in Diffuse Large B-cell Lymphoma : How Bad can it be

   Author : Gustaf Hedström; Gunilla Enblad; Francesco D'Amore; Uppsala universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; DLBCL; Survival; Mast cell; Microenvironment; MicroRNA; MDM2; Polymorphism; Age; Epidemiology; Oncology; Onkologi;

   Abstract : Diffuse large B-cell lymphoma (DLBCL), which is the most common type of lymphoma, is characterised by its aggressiveness and poor outcome without adequate treatment and also for its biological and clinical heterogeneity. It is therefore highly desirable to gain a more profound understanding of the underlying biology of the disease, as well as predictive factors for the guidance of treatment. READ MORE

4. 12. Evidence for adaptive variation at the genes coding for cytosolic phosphoglucose isomerase (PGIC) in Festuca ovina L

   Author : Yuan Li; Biodiversitet; []
   Keywords : NATURVETENSKAP; NATURAL SCIENCES; 3-D protein structure; purifying selection; positive selection; cDNA sequences; local adaptation; alvar grasslands; Festuca ovina; Phosphoglucose isomerase; PgiC loci; SNPs; nucleotide polymorphism; horizontal gene transfer;

   Abstract : The gene (Pgi) encoding the enzyme phosphoglucose isomerase (PGI) which plays a central role in the main pathways of carbon metabolism has been shown to be of adaptive significance in a wide range of different species. Earlier studies of enzyme electromorph variation in the grass Festuca ovina suggest that variation in cytosolic PGI (PGIC) may be involved in the adaptive response of F. READ MORE

5. 13. Applications of Four-Colour Fluorescent Primer Extension Technology for SNP Analysis and Discovery

   Author : Annika Ahlford; Ann-Christine Syvänen; Mats Nilsson; David Schwartz; Uppsala universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Single nucleotide polymorphism; Genotyping; Massively parallel sequencing; Gene mapping; Lab-on-a-chip; Medical genetics; Medicinsk genetik; Molecular biology; Molekylärbiologi; Molekylär medicin; Molecular Medicine;

   Abstract : Studies on genetic variation can reveal effects on traits and disease, both in humans and in model organisms. Good technology for the analysis of DNA sequence variations is critical. Currently the development towards assays for large-scale and parallel DNA sequencing and genotyping is progressing rapidly. READ MORE

6. 14. Familial amyloidosis with polyneuropathy : studies of genetic factors modifying the phenotype of the disease

   Author : Malin Olsson; Ole B Suhr; Lisbeth Tranebjærg; Umeå universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Familial amyloid polyneuropathy; Amyloidosis; Transthyretin; Allele Frequency; Mitochondria; parent-of-origin; MicroRNA; Single Nucleotide Polymorphism; 3 Untranslated Regions genetics; Medical genetics; Medicinsk genetik; Clinical genetics; Klinisk genetik; genetik; Genetics; klinisk genetik; Clinical Genetics; medicin; Medicine;

   Abstract : Background. Familial Amyloidosis with Polyneuropathy (FAP) is an autosomal dominantly inherited systemic amyloid disease. The disease is caused by mutations in the transthyretin (TTR) gene, where close to 100 different amyloidogenic mutations have been identified. READ MORE

7. 15. Microfluidic bead-based methods for DNA analysis

   Author : Aman Russom; Ulf Gyllensten; KTH; []
   Keywords : 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;

   Abstract : 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. READ MORE