Sökning: "Single Nucleotide"

Visar resultat 21 - 25 av 437 avhandlingar innehållade orden Single Nucleotide.

1. 21. Microarray Technology for Genotyping in Pharmacogenetics

   Författare :Ulrika Liljedahl; Ann-Christine Syvänen; Denis Grant; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Molecular medicine; microarray; genotyping; pharmacogenetics; molecular medicine; single nucleotide polymorphism; hypertension; Molekylärmedicin; Molecular medicine genetics and pathology ; Molekylär medicin genetik och patologi ;

   Sammanfattning : The studies in this thesis describe the development of a microarray based minisequencing system and its application to highly parallel genotyping of single nucleotide polymorphisms. The technical developments included identification of a three-dimensional microarray surface coating with high binding capacity for oligonucleotides modified with amino groups as the most optimal one for the system. LÄS MER

3. 22. Genetics and the Origin of Two Flycatcher Species

   Författare :Thomas Borge; Glenn-Peter Saetre; Staffan Bensch; Uppsala universitet; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Biology; reinforcement; reproductive isolation; Z chromosome; hybridization; mate-choice; single nucleotide polymorphism; sequence variation; sexual selection; recombination; Biologi; Biology; Biologi;

   Sammanfattning : In this thesis, different genetic tools are used to investigate pre- and postzygotic barriers to gene exchange and their role in speciation in the pied flycatcher (Ficedula hypoleuca) and the collared flycatcher (F. albicollis). This species complex consists of four genetically distinct clades that apparently diverged in allopatry (I). LÄS MER

4. 23. The Histidine-rich Glycoprotein in Reproduction

   Författare :Karin E Lindgren; Inger Sundström-Poromaa; Helena Åkerud; Eva Wiberg-Itzel; Lalit Kumar Parameswaran Grace; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Angiogenesis; embryo culture medium; embryogenesis; embryonic secretome; endometrium; histidine-rich glycoprotein; human embryo development; human embryo implantation; human endometrial endothelial cells; in vitro fertilisation; infertility; male infertility; proximity extension assay; recurrent miscarriage; single nucleotide polymorphism; sperm quality; time-lapse technique; vascular endothelial growth factor;

   Sammanfattning : Infertility affects 15% of reproductive-aged couples. The milieu surrounding the growing embryo is of outmost importance, and should be optimised during in vitro fertilisation (IVF). Many biological processes, such as angiogenesis, coagulation, and immune processes need to be well regulated for a pregnancy to occur and progress normally. LÄS MER

5. 24. Clinical and Experimental Studies in Primary Sjögren’s Syndrome and Systemic Lupus Erythematosus

   Författare :Gunnel Nordmark; Lars Rönnblom; Olle Kämpe; Ola Winqvist; Lennart Jacobsson; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Medicine; Sjögren’s syndrome; SLE; α-fodrin; interferon-α; single nucleotide polymorphism; dehydroepiandrosterone; Medicin; Dermatology and venerology; clinical genetics; internal medicine; Dermatologi och venerologi; klinisk genetik; invärtesmedicin;

   Sammanfattning : Autoimmune mechanisms and genetic susceptibility contribute to the pathogenesis of primary Sjögren’s syndrome and SLE. These chronic systemic autoimmune diseases have many serological and clinical features in common and have an impact on daily life. LÄS MER

7. 25. 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