Sökning: "homozygous deletion"

Visar resultat 1 - 5 av 36 avhandlingar innehållade orden homozygous deletion.

  1. 1. Detecting Deletions by Analysis of Genetic Markers in Pedigrees

    Författare :Anna Johansson; Biologiska institutionen; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; cytogenetics; Genetik; Genetics; Biologi; genetic marker; pedigree; Protein S deficiency; Biology; PROS1; deletion; null allele; cytogenetik;

    Sammanfattning : A deletion is defined as a missing piece of a chromosome, ranging in size from as small as a single base pair to as much as an entire arm of a chromosome. Deletions can cause diseases, but may also have a neutral effect in the genome. LÄS MER

  3. 2. Sex steroid metabolism and body composition

    Författare :Charlotte Swanson; Göteborgs universitet; []
    Nyckelord :UDP glucuronosyltranferases; polymorphisms; androgens; glucuronidated androgen metabolites; fat mass; bone; metabolic risk factors; population study;

    Sammanfattning : Background: The bioactive androgens testosterone (T) and dihydrotestosterone (DHT) regulate bone and fat mass in men. The effects of androgens are largely determined by the rate of their synthesis and inactivation. LÄS MER

  4. 3. Array based genetic profiling of bone and soft tissue tumors

    Författare :Karolin Hansén Nord; Avdelningen för klinisk genetik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES;

    Sammanfattning : In this thesis, genetic alterations in bone and soft tissue tumors have been investigated with the purpose of identifying regions of importance for tumor development, diagnosis and prognosis. This has primarily been performed by array comparative genomic hybridization analysis and gene expression profiling of cytogenetically analyzed tumors. LÄS MER

  5. 4. Genetics of androgen disposition : implications for doping tests

    Författare :Jenny Jakobsson Schulze; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Anabolic androgenic steroids (AAS) are derivatives of testosterone. Doping with AAS is a severe challenge to the vision, moral and ethics in sports and has also become an increasing problem in society. Testosterone abuse is conventionally assessed by the urinary testosterone glucuronide/ epitestosterone glucuronide (T/E) ratio, levels above 4. LÄS MER

  7. 5. Cell cycle regulatory genes in human astrocytic tumors

    Författare :Koichi Ichimura; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Cancer is a genetic disorder of somatic cells. Neoplastic transformation and malignant progression may be a consequence of accumulated multiple genetic changes in a cell. Astrocytic gliomas are the commonest brain tumors in humans. LÄS MER