Sökning: "single nucleotide polymorphism SNP"

Visar resultat 11 - 15 av 118 avhandlingar innehållade orden single nucleotide polymorphism SNP.

1. 11. 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

3. 12. 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

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

   Författare :Mona Fredriksson; Ann-Christine Syvänen; Aarno Palotie; Uppsala universitet; []
   Nyckelord :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 ;

   Sammanfattning : 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). LÄS MER

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

   Författare :Yuan Li; Biodiversitet; []
   Nyckelord :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;

   Sammanfattning : 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. LÄS MER

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

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

   Sammanfattning : 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. LÄS MER