Search for dissertations about: "microsatellite analysis"

Showing result 21 - 25 of 92 swedish dissertations containing the words microsatellite analysis.

2. 21. Long QT syndrome in Sweden : founder effects and associated cardiac phenotypes

   Author : Annika Winbo; Annika Rydberg; Eric Schulze-Bahr; Umeå universitet; []
   Keywords : 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;

   Abstract : 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. READ MORE

4. 22. Colorectal Cancer : Aspects of Heredity, Prognosis and Tumour Markers

   Author : Lana Ghanipour; Helgi Birgisson; Lars Påhlman; Karin Jirström; Tom Öresland; Uppsala universitet; []
   Keywords : colorectal cancer; heredity; Tryptophanyl t-RNA synthetase; microsatellite instability; SP-PLA; prognosis; biomarkers;

   Abstract : Colorectal cancer (CRC) is one of the most common cancer types and leading causes of cancer death worldwide. Since CRC is a heterogenic disease, there is a demand for increased knowledge of the underlying genetic and epigenetic mechanisms. The aim of this thesis was to investigate heredity and potential tumour markers in relation to prognosis. READ MORE

5. 23. Genetic studies on Systemic Lupus Erythematosus : A fine mapping and candidate gene approach

   Author : Veronica Magnusson; Jerry Lanchbury; Uppsala universitet; []
   Keywords : NATURVETENSKAP; NATURAL SCIENCES; Molecular genetics; Systemic Lupus Erythematosus; complex disease; linkage analysis; candidate gene; association studies; Genetik; Genetics; Genetik; medicinsk genetik; Medical Genetics;

   Abstract : Linkage in the 2q37 region was evaluated using microsatellite markers in multi-case families from Sweden, Iceland and Norway. Both the two-point and the multipoint linkage analysis show highly significant LOD scores (Z=4.51 and 6.03, respectively). READ MORE

6. 24. Genetic susceptibility to psoriasis in Sweden

   Author : Fredrik Enlund; Göteborgs universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; CD80; CD86; joint complaints; linkage analysis; NPL; psoriasis; TDT; chromosome region 3q21;

   Abstract : A common skin disease affecting about 2-3% of the population, psoriasis has an inheritance pattern that is unclear, but most probably many genes are involved in its pathogenesis. Other studies have suggested many susceptibility regions in the genome, but as yet independent studies have replicated only some of these regions located on chromosome 1q, 6p and 17q. READ MORE

7. 25. Evolutionary Processes and Spatial Genetic Variation in Euphrasia stricta on the Baltic Island of Gotland

   Author : Anna-Karin Kolseth; Brita Svensson; Mikael Lönn; Joop Ouborg; Uppsala universitet; []
   Keywords : NATURVETENSKAP; NATURAL SCIENCES; Ecology; genetic differentiation; regional processes; conservation genetics; AFLP; microsatellites; gene flow; local adaptation; shape analysis; Ekologi;

   Abstract : The identification of processes governing genetic structure at different spatial scales remains a major challenge in evolutionary biology and is of considerable applied interest in conservation biology. In Euphrasia stricta five varieties have been identified (brevipila, gotlandica, stricta, suecica and tenuis) based on differences in habitat, phenology and morphology. READ MORE