Search for dissertations about: "genome-wide scan"

Showing result 26 - 30 of 32 swedish dissertations containing the words genome-wide scan.

  1. 26. Molecular Genetic Studies of ALSG, Kostmann Syndrome and a Novel Chromosome 10 Inversion

    Author : Miriam Entesarian; Niklas Dahl; Niels Tommerup; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Clinical genetics; Klinisk genetik; Clinical Genetics; klinisk genetik;

    Abstract : In summary, this thesis presents the localisation and identification of genetic variants of which some are disease associated and some considered to be neutral. Knowledge of the basic mechanisms behind human disorders is important both from a biological and medical point of view. READ MORE

  2. 27. Geographic variation in life cycles : Local adaptation and ecological genetics in a temperate butterfly

    Author : Olle Lindestad; Karl Gotthard; Sören Nylin; Christopher W Wheat; Greg Ragland; Stockholms universitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; voltinism; local adaptation; insect; life cycle; seasonality; genomics; life history; zoologisk ekologi; Animal Ecology;

    Abstract : Conditions in nature change with the seasons, necessitating seasonal adaptations that synchronize the life cycles of organisms with their surroundings. Such regulatory adaptations must vary between populations to track local variation in climate and seasonality; this local adaptation is facilitated by locally specific seasonal cues, but may be hampered by gene flow and genetic history. READ MORE

  3. 28. Genetic dissection of multifactorial disease models in the rat

    Author : Hong Jiao; Karolinska Institutet; Karolinska Institutet; []
    Keywords : Type 2 daibetes; Goto-Kakizaki rat; linkage analysis; quantitative trait locus; gene-gene interaction; mitochondrial sequence; parent-of-origin;

    Abstract : Type 2 diabetes (T2D) is characterized by two apparently distinct pathophysiologic defects - insulin resistance and a failure of the pancreatic Beta-cells to compensate for this resistance by appropriately increasing insulin secretion. There is strong evidence for an important role of genetics in both of these components. READ MORE

  4. 29. Identification of the susceptibility genes in type 1 diabetes and diabetic nephropathy

    Author : Jun Ma; Karolinska Institutet; Karolinska Institutet; []
    Keywords : Type 1 Diabetes; Diabetic Nephropathy; Genetic Association; Single Nucleotide Polymorphism;

    Abstract : Genetic susceptibility plays an important role in the pathogenesis of type 1 diabetes (T1D) and diabetic nephropathy (DN). The present study aims to investigate the association between single nucleotide polymorphisms (SNPs) in candidate genes and DN. READ MORE

  5. 30. Clinical and genetic aspects on cluster headache

    Author : Christina Sjöstrand; Karolinska Institutet; Karolinska Institutet; []
    Keywords : Cluster headache; natural history; familial CH; atypical CH; genetics; association; linkage; gene expression;

    Abstract : Cluster headache (CH), a primary neurovascular headache syndrome, is characterized by recurrent, unilateral, short-lasting attacks of excruciating pain in the temporal region. The pain is considered one of the most severe pain conditions known to humans. READ MORE