Search for dissertations about: "single-nucleotide polymorphism SNP"

Showing result 11 - 15 of 118 swedish dissertations containing the words single-nucleotide polymorphism SNP.

  2. 11. Genetics of Parkinson's disease - with focus on genes of relevance for inflammation and dopamine neruon development

    Author : Anna Zettergren; Göteborgs universitet; []
    Keywords : Parkinson s disease; genetics; inflammation; single nucleotide polymorphism; dopamine neuron development; estrogen; gene; age of onset; Pitx3; estrogen receptor beta; interleukin 6;

    Abstract : Abstract GENETICS OF PARKINSON’S DISEASE - WITH FOCUS ON GENES OF RELEVANCE FOR INFLAMMATION AND DOPAMINE NEURON DEVELOPMENT Introduction: The risk to be affected by Parkinson’s disease (PD) is considered to be influenced by genetic factors. In some rare cases of familial PD, mutations in some specific genes are known to cause the disease, but in the more common sporadic form of PD the causes are probably environmental factors interacting with genetic vulnerability. READ MORE

  4. 12. Biological Markers of Fertility

    Author : Sarah Nordqvist; Helena Åkerud; Karin Kårehed; Agneta Skoog Svanberg; Anneli Stavreus-Evers; Geraldine Hartshorne; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; angiogenesis; embryogenesis; female reproductive tract; fertility; fertilization; Histidine-rich glycoprotein; intron; in vitro fertilization; oocyte; ovarian response; pregnancy; single nucleotide polymorphism; Src homology 2 domain-containing adapter protein B;

    Abstract : Infertility affects 15 % of couples, which corresponds to 60 - 80 million worldwide. The microenvironments in which the oocyte, embryo and fetus mature are vital to the establishment and development of a healthy pregnancy. READ MORE

  5. 13. Using Minisequencing Technology for Analysing Genetic Variation in DNA and RNA

    Author : Mona Fredriksson; Ann-Christine Syvänen; Aarno Palotie; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Molecular medicine; microarray; minisequencing; molecular medicine; single nucleotide polymorphism; stem cell transplantation; whole genome amplification; allelic imbalance; alternative splicing; Molekylärmedicin; Molecular medicine genetics and pathology ; Molekylär medicin genetik och patologi ;

    Abstract : In this thesis, the four-color fluorescence tag-microarray minisequencing system pioneered by our group was further developed and applied for analysing genetic variation in human DNA and RNA. A SNP marker panel representing different chromosomal regions was established and used for identification of informative SNP markers for monitoring chimerism after stem cell transplantation (SCT). READ MORE

  6. 14. Genetic variation at the human tissue-type plasminogen activator locus

    Author : Per Ladenvall; Göteborgs universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; tissue-type plasminogen activator; single-nucleotide polymorphism; vascular release; myocardial infarction; enhancer; Sp1.;

    Abstract : Tissue-type plasminogen activator (tPA) is the key initiator of intravascular fibrinolysis. Family studies suggest that tPA release is regulated by hereditary factors. READ MORE

  7. 15. Tissue Factor and CD40 Ligand : Markers for the Interplay of Coagulation and Inflammation in the Acute Coronary Syndrome

    Author : Anders Mälarstig; Agneta Siegbahn; Lars Wallentin; Taavo Tenno; Fiona Green; Uppsala universitet; []
    Keywords : Molecular medicine; tissue factor; CD40 ligand; gene expression; single nucleotide polymorphism; acute coronary syndrome; myocardial infarction; coagulation; inflammation; Molekylärmedicin;

    Abstract : BACKGROUND: Tissue factor (TF) is a 47 kDa transmembrane glycoprotein known as the main initiator of blood coagulation. CD40 ligand is another membrane molecule, which ligates to cell types associated with atherosclerotic plaques thereby mediating intraplaque inflammation and weakening of the fibrous cap. READ MORE