Sökning: "single nucleotide polymorphism SNP"

Visar resultat 6 - 10 av 118 avhandlingar innehållade orden single nucleotide polymorphism SNP.

  1. 6. Genetic Sequence Analysis by Microarray Technology

    Författare :Emilie Hultin; Joakim Lundeberg; Afshin Ahmadian; Marie Allen; KTH; []
    Nyckelord :TEKNIK OCH TEKNOLOGIER; ENGINEERING AND TECHNOLOGY; Genotyping; single nucleotide polymorphism SNP ; protease-mediated allele-specific extension PrASE ; microarray; tag-array; competitive hybridization; human papillomavirus HPV ; single cell; loss of alleles; differentiation; epidermis.; Bioengineering; Bioteknik;

    Sammanfattning : Developments within the field of genetic analysis have during the last decade become enormous. Advances in DNA sequencing technology have increased throughput from a thousand bases to over a billion bases in a day and decreased the cost thousandfold per base. LÄS MER

  3. 7. Applications of Four-Colour Fluorescent Primer Extension Technology for SNP Analysis and Discovery

    Författare :Annika Ahlford; Ann-Christine Syvänen; Mats Nilsson; David Schwartz; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Single nucleotide polymorphism; Genotyping; Massively parallel sequencing; Gene mapping; Lab-on-a-chip; Medical genetics; Medicinsk genetik; Molecular biology; Molekylärbiologi; Molekylär medicin; Molecular Medicine;

    Sammanfattning : Studies on genetic variation can reveal effects on traits and disease, both in humans and in model organisms. Good technology for the analysis of DNA sequence variations is critical. Currently the development towards assays for large-scale and parallel DNA sequencing and genotyping is progressing rapidly. LÄS MER

  4. 8. Search for Type 2 Diabetes Susceptibility Genes Using Multiple Approaches

    Författare :Cecilia Lindgren; Malmö Institutionen för kliniska vetenskaper; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; single nucleotide polymorphism SNP ; transmission-disequilibrium test TDT ; genetic variation; single strand conformational polymorphism SSCP ; gene expression; insulin; glucose; genome-wide scan; linkage; genetic association; Type 2 diabetes; early onset diabetes EOD ; sekretion; diabetologi; Endokrinologi; diabetology; Endocrinology; secreting systems; signal-to-noise ratio SNR ;

    Sammanfattning : Type 2 diabetes mellitus is a multifactorial disorder characterized by chronic hyperglycemia resulting from pancreatic dysfunction and insulin resistance. It is a common disorder with a complex pattern of inheritance, likely to reflect the influence of multiple genetic and environmental factors on the diabetes risk. LÄS MER

  5. 9. On the Tissue-type Plasminogen Activator (t-PA) -7,351C>T Enhancer Polymorphism. Importance for endothelial t-PA gene expression and arterial thrombotic disease

    Författare :Anna Tjärnlund-Wolf; Göteborgs universitet; []
    Nyckelord :tissue-type plasminogen activator; plasminogen activator inhibitor type-1; polymorphism; endothelium; Sp1; gene expression; myocardial infarction; ischemic stroke;

    Sammanfattning : Local endothelial release of tissue-type plasminogen activator (t-PA) is an important thromboprotective mechanism. Earlier work by our group has identified a common single nucleotide polymorphism (SNP) at the t-PA locus (-7,351C>T), located within a GC-box in the retinoic acid (RA) and steroid hormone responsive t-PA enhancer. LÄS MER

  7. 10. Approaches for analysis of mutations and genetic variations

    Författare :Afshin Ahmadian; KTH; []
    Nyckelord :LOH; microsatellite; fragment analysis; DNA sequencing; pyrosequencing; cancer; mutation; variation; SNP; allele-specific extension; apyrase; TECHNOLOGY; TEKNIKVETENSKAP;

    Sammanfattning : Detecting mutations and genomic variations is fundamental indiagnosis, isolating disease genes, association studies,functional genomics and pharmacogenomics. The objective hasbeen to use and further develop a variety of tools andtechnologies to analyze these genetic alterations andvariations. LÄS MER