Sökning: "genetik patient"

Visar resultat 1 - 5 av 118 avhandlingar innehållade orden genetik patient.

  1. 1. Somatic Mutations in Breast Cancer Genomes : Discovery and Validation of Breast Cancer Genes

    Författare :Xiang Jiao; Tobias Sjöblom; Anne-Lise Børresen-Dale; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; breast cancer; cancer gene; pathway; somatic mutation; structural alteration; sequencing; whole genome amplification; Genetics; Genetik; Medical Genetics; Medicinsk genetik;

    Sammanfattning : Breast cancer is the most common cancer in women worldwide. However, the genetic alterations that lead to breast cancer are not fully understood. This thesis aims to identify novel genes of potential mechanistic, diagnostic or therapeutic interest in breast cancers by mutational analysis and whole-genome sequencing. LÄS MER

  3. 2. Familial amyloidosis with polyneuropathy : studies of genetic factors modifying the phenotype of the disease

    Författare :Malin Olsson; Ole B Suhr; Lisbeth Tranebjærg; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Familial amyloid polyneuropathy; Amyloidosis; Transthyretin; Allele Frequency; Mitochondria; parent-of-origin; MicroRNA; Single Nucleotide Polymorphism; 3 Untranslated Regions genetics; Medical genetics; Medicinsk genetik; Clinical genetics; Klinisk genetik; genetik; Genetics; klinisk genetik; Clinical Genetics; medicin; Medicine;

    Sammanfattning : Background. Familial Amyloidosis with Polyneuropathy (FAP) is an autosomal dominantly inherited systemic amyloid disease. The disease is caused by mutations in the transthyretin (TTR) gene, where close to 100 different amyloidogenic mutations have been identified. LÄS MER

  4. 3. Expression profiling using manifold supports

    Författare :Anette Hagberg; Joakim Lundeberg; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; mRNA; expression; minimal residual disease MRD ; chronic myeloid leukemia CML ; recombinant human erythropoietin r-HuEpo ; anemia; insulin dependent diabetes mellitus IDDM ; transplantation; Genetik; Clinical genetics; Klinisk genetik; Medical Genetics; medicinsk genetik;

    Sammanfattning : Analyses of mRNA provides a condensed view of gene structure and quantitative analysis can reveal the induction of physiological or pathological gene expression programs. This thesis describes a new method for mRNA isolation, followed by sensitive real time detection via polymerase chain reaction (PCR), in order to quantitate transcripts of interest. LÄS MER

  5. 4. Cytogenetic and molecular analysis of chromosomal rearrangements associated with neuropsychiatric disorders

    Författare :Dmitry Tentler; Niels Tommerup; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Mental retardation; autism; Asperger syndrome; chromosomal rearrangement; Genetik; Clinical genetics; Klinisk genetik; Clinical Genetics; klinisk genetik;

    Sammanfattning : Genetic factors are important in the aetiology of neuropsychiatric disorders. Analysis of chromosomal abnormalities associated with these disorders may provide locus specific information for the identification of candidate genes and, subsequently, for our understanding of brain development and functioning. LÄS MER

  7. 5. Genetic and environmental risk factors of cervical carcinoma in Situ

    Författare :Agnetha Josefsson; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Cervical carcinoma; Human papillomavirus; exonuclease assay; persistence; viral copy number; quantitation; p53; Genetik; Clinical genetics; Klinisk genetik; Medical Genetics; medicinsk genetik;

    Sammanfattning : Invasive cervical cancer is the third most common cancer form among women. In 1990 there were approximately 370,000 new cases diagnosed in the world. The risk of morbidity and mortality of cervical cancer among women is a problem, particularly in the developing countries. LÄS MER