Sökning: "genetic variation SNP"

Visar resultat 1 - 5 av 99 avhandlingar innehållade orden genetic variation SNP.

  1. 1. Genetic variation and sexual reproduction in a moss with dwarf males, Homalothecium lutescens

    Författare :Frida Rosengren; Biodiversitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; bryophytes; mosses; dwarf males; sexual reproduction; genetic variation; genetic structure; inbreeding; isozymes; allozymes; SNP; sporophytes; spore; fertilization; fertility;

    Sammanfattning : Dwarf males occur in many unrelated groups of organisms. Among land plants they are unique to mosses. Moss dwarf males originate from male spores that land and germinate on the female where their final size is restricted to a few mm. Fertilization in mosses occur over short distances with swimming spermatozoids. LÄS MER

  3. 2. Genetic studies of diabetes in northern Sweden

    Författare :Sofia Mayans; Dan Holmberg; Mats Eliasson; Outi Vaarala; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Diabetes; families; genetic; association; SNP; linkage; TCF7L2; CTLA-4; Calpain-10; Medical genetics; Medicinsk genetik;

    Sammanfattning : Diabetes mellitus represents a group of metabolic disorders caused by both environmental and genetic factors. The two most common forms of diabetes are type 2 diabetes (T2D) and type 1 diabetes (T1D). T2D is associated with obesity and the disease is caused by insulin resistance and pancreatic b-cell dysfunction. LÄS MER

  4. 3. 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

  5. 4. The human pancreatic polypeptide receptor Y4 : Genetic and functional variation

    Författare :Kateryna Shebanits; Dan Larhammar; Sadaf Farooqi; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NPY4R; Y4; obesity; CNV; Medicinsk vetenskap; Medical Science;

    Sammanfattning : Humans are evolutionarily adapted to an environment where food is scarce, but today many live in a world of food abundance. Paired with low physical activity, this may lead to weight gain and obesity. Efficient anti-obesity treatments require understanding of the mechanisms that control hunger, satiety, energy metabolism and body weight. LÄS MER

  7. 5. Genetic and Genomic Analysis of DNA Sequence Variation

    Författare :Per Erik Lundmark; Ann-Christine Syvänen; Karl Michaelsson; Gert-Jan B. van Ommen; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; SNP; NPC1; association study; allele specific expression; tagSNP; non-coding RNA; Molecular medicine genetics and pathology ; Molekylär medicin genetik och patologi ; Molekylär medicin; Molecular Medicine;

    Sammanfattning : The studies in this thesis describe the application of genotyping and allele specific expression analysis to genetic studies. The role of the gene NPC1 in Triglyceride metabolism was explored in mouse models and in humans on the population level in study I. LÄS MER