Sökning: "genome wide scan"

Visar resultat 11 - 15 av 34 avhandlingar innehållade orden genome wide scan.

  1. 11. Genetic and epidemiological studies of hereditary colorectal cancer

    Författare :Kristina Cederquist; Henrik Grönberg; Irina Golovleva; Gösta Holmgren; Mef Nilbert; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Lynch syndrome; HNPCC; colorectal cancer; endometrial cancer; cancer risk; MSI; MLH1; MSH2; MSH6; genome-wide scan; Genetik; Clinical genetics; Klinisk genetik; medicinsk genetik; Medical Genetics;

    Sammanfattning : Lynch syndrome (Hereditary Nonpolyposis Colorectal Cancer, HNPCC) is the most common hereditary syndrome predisposing to colorectal cancer, accounting for 1-3% of all colorectal cancer. This multi-organ cancer predisposition syndrome is caused by mutations in the mismatch repair (MMR) genes, especially MLH1 and MSH2, and to lesser extents MSH6 and PMS2, which lead to widespread genetic instability and thus microsatellite instability (MSI). LÄS MER

  3. 12. The genetic contribution to stroke in northern Sweden

    Författare :Tomas Janunger; Dan Holmberg; Holger Luthman; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Northern Sweden; stroke; genetics; genome wide scan; association; 5q13; 9q31-33; Medical genetics; Medicinsk genetik; medicinsk genetik; Medical Genetics;

    Sammanfattning : Stroke is a common multi factorial cerebrovascular disorder with a large impact on global health. It is a disorder primarily associated with old age but environmental factors, lifestyle choices and medical history are all important for the risk of developing the disorder. LÄS MER

  4. 13. The genetic complexity of celiac disease. Gene variants linked and associated to an inflammatory autoimmune disorder

    Författare :Åsa Torinsson Naluai; Göteborgs universitet; []
    Nyckelord :Celiac disease; genome-wide scan; linkage; association; complex disease; autoimmune; CTLA4; 5q31-33; polymorphism;

    Sammanfattning : .... LÄS MER

  5. 14. Sequence evolution in a chromosomal region of Arabidopsis thaliana

    Författare :Jenny Hagenblad; Biologiska institutionen; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Växtgenetik; Plant genetics; flowering time; mapping; polymorphism; Linkage disequilibrium; Arabidopsis thaliana;

    Sammanfattning : Recently there has been a lot of interest in the use of liknage disequilibrium (LD) in genome wide scans for new genes, so called association mapping. Of crucial importance to a genome wide scan for associations between genetic markers and the trait of interest is the extent of LD, as it determines both how closely a trait can be mapped and also how many markers is needed to map it. LÄS MER

  7. 15. Prevalence and Inheritance of Hip Osteoarthritis in Iceland

    Författare :Thorvaldur Ingvarsson; Lund Ortopedi; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Surgery; gene; inheritance; age standardiation; prevalence; THR; Hip; OA; traumatologi; Kirurgi; ortopedi; traumatology; orthopaedics;

    Sammanfattning : Hereditary factors are suggested to contribute to osteoarthritis (OA), but their relative importance is uncertain. Moreover, the underlying specific variations at the genome level remain unknown. The prevalence of hip OA in Iceland was assessed by examining colon radiographs and was found to be at least 5-fold higher compared to Sweden and Denmark. LÄS MER