Sökning: "genome-scan"

Visar resultat 1 - 5 av 21 avhandlingar innehållade ordet genome-scan.

1. 1. Genetic Mapping of Susceptibility Genes for Systemic Lupus Erythematosus

   Författare :Bo Johanneson; Jean Pierre Hugot; Uppsala universitet; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Molecular genetics; Association analysis; Candidate gene; Complex disease; Genome scan; Linkage analysis; Mapping; Susceptibility genes; Systemic lupus erythematosus; Genetik; Genetics; Genetik; medicinsk genetik; Medical Genetics;

   Sammanfattning : Systemic lupus erythematosus (SLE) is a complex autoimmune disease with unknown etiology. The aim of this thesis was to identify susceptibility regions through genetic mapping, using model-based linkage analysis on nuclear and extended SLE multicase families. LÄS MER

3. 2. Genetic Analysis of Quantitative Traits Using Domestic Animals : A Candidate Gene and Genome Scanning Approach

   Författare :Hee-Bok Park; Leif Andersson; Stefan Marklund; Robert Fredricksson; Holger Luthman; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Domestication; horse; pig; chicken; quantitative traits; candidate gene; genome scan; PRKAG3; MC4R; selection experiment; growth; correlated response; metabolic disorders; Quantitative Trait Loci; linkage; single nucleotide polymorphisms; Genetik; Clinical genetics; Klinisk genetik;

   Sammanfattning : Domestication has led to genetic changes that affect quantitative traits in farm animals. Both candidate gene analysis using association tests and genome scans based on linkage analysis have been performed to understand the molecular basis underlying quantitative genetic variation in horses, pigs and chickens. LÄS MER

4. 3. On the genetics of hereditary breast/ovarian cancer. BRCA1, BRCA2 and beyond

   Författare :Annika Bergman; Göteborgs universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; BRCA1; BRCA2; breast cancer; hereditary cancer; founder mutation; mutation analysis; linkage analysis; genome scan; BRCAX;

   Sammanfattning : Breast cancer is the most common malignancy in women. Most of the breast cancers are sporadic with no apparent inheritance factor but about 5-10% is believed to be caused by an inherited predisposition. Aims: This thesis aimed at defining the BRCA1/2 mutation spectrum of the west Swedish population and specifically to characterize the BRCA1c. LÄS MER

5. 4. Genetic response to pollution in sticklebacks; natural selection in the wild

   Författare :Emma Lind; Mats Grahn; Marjorie Oleksiak; Stockholms universitet; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Population genomics; genome scan; divergent selection; Gasterosteus aculeatus; Baltic Sea; pollution; funktionell zoomorfologi; Functional Zoomorphology;

   Sammanfattning : The last century, humans have been altering almost all natural environments at an accelerating rate, including the Baltic Sea that has highly eutrophicated areas and many coastal industries such as Pulp-mills. For animals living in a habitat that changes there are basically two alternatives, either to cope with the change or become locally extinct. LÄS MER

7. 5. The genetics of systemic lupus erythematosus : Mapping of susceptibility loci for human SLE

   Författare :Anna-Karin B. Lindqvist; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Systemic lupus erythematosus; complex diseases; genetic susceptibility; linkage analysis; genome scan; candidate gene; Genetik; Clinical genetics; Klinisk genetik; Medical Genetics; medicinsk genetik;

   Sammanfattning : Systemic lupus erythematosus (SLE) is a systemic autoimmune disease affecting organs such as skin, jointsand kidneys. Characteristic for the disease is increased production of autoantibodies, in particular against dsDNA. Previous studies of SLE in mouse models and in humans indicate polygenic inheritance and genetic heterogeneity. LÄS MER