Search for dissertations about: "positional cloning"

Showing result 1 - 5 of 24 swedish dissertations containing the words positional cloning.

  2. 1. Positional Cloning of Disease Causing Genes : A Genetic Study of Obesity, Ichthyosis Prematurity Syndrome and Meniere's Disease

    Author : Joakim Klar; Niklas Dahl; Catharina Larsson; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Positional cloning; Obesity; Ichthyosis; Meniere’s disease; RORa; PIK3C2G; Genetik; Clinical genetics; Klinisk genetik;

    Abstract : Positional cloning is a method to identify genes from their position in the genome without prior knowledge about function. We used this approach to investigate the basis for three distinct genetic disorders; Obesity, Ichthyosis Prematurity Syndrome and Meniere's disease. READ MORE

  4. 2. Diamond-Blackfan anemia : Mapping and identification of the disease gene

    Author : Peter Gustavsson; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Diamond-Blackfan anemia; erythropoiesis; positional cloning; chromosome 19q13; ribosomal protein S19 gene; Genetik; Clinical genetics; Klinisk genetik; Clinical Genetics; klinisk genetik;

    Abstract : This thesis presents the positional cloning of the gene behind Diamond-Blackfan anemia. Evidence for the involvement of ribosomal protein (RP) S19 gene mutations in Diamond-Blackfan anemia is given. This is the first example of a human disease that is directly related to a ribosomal protein. READ MORE

  5. 3. Positional cloning of polymorphic loci that control autoreactive T cells

    Author : Mike Aoun; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : Autoimmune diseases are expensive diseases, both financially and socially, because they are in most cases life long and require a long-lasting treatment. They can also be life threatening, as they are among top 10 causes of death in women and therefore, they represent a serious clinical problem and require careful medical management. READ MORE

  6. 4. Megencephaly, significance, biology and identification of a genetic cause

    Author : Susanna Petersson; Karolinska Institutet; Karolinska Institutet; []
    Keywords : Megalencephaly; brain; mceph; ion-channel; DNA; mutation; truncation; frameshift; seizure; plasticity; neurotrophin; growth factor; neuropeptide; positional cloning;

    Abstract : Enlarged brain is termed megencephaly or megalencephaly, and is defined as a brain volume above the 98th percentile. It is a major sign in several neurological diseases with symptoms ranging from very mild to lethal, including mental retardation, low intelligence, motoric and neurological disturbances, seizures and dysmorphic features. READ MORE

  7. 5. TERMINAL FLOWER2, the Arabidopsis HETEROCHROMATIN PROTEIN1 Homolog, and its Involvement in Plant Development

    Author : Katarina Landberg; Annika Sundås Larsson; Peter Engström; Ove Nilsson; Uppsala universitet; []
    Keywords : Biology; Arabidopsis; HETEROCHROMATIN PROTEIN1; flowering; meristem; auxin; Biologi;

    Abstract : This thesis describes the characterization of the Arabidopsis thaliana mutant terminal flower2 (tfl2), the cloning of the corresponding gene, and the analysis of TFL2 function in plant development. The tfl2 mutant is pleiotropic, exhibiting early floral induction in both long and short day conditions, a terminating inflorescence and dwarfing. READ MORE