Search for dissertations about: "Medical Genetics"

Showing result 21 - 25 of 655 swedish dissertations containing the words Medical Genetics.

  2. 21. Genetic studies of two inherited human phenotypes : Hearing loss and monoamine oxidase activity

    Author : Jorune Balciuniene; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; linkage analysis; hearing loss; digenic inheritance; allelic association; monoamine oxidase; human genetic diversity; Genetik; Clinical genetics; Klinisk genetik; Medical Genetics; medicinsk genetik;

    Abstract : This thesis focuses on the identification of genetic factors underlying two inherited human phenotypes: hearing loss and monoamine oxidase activity. Non-syndromic hearing loss segregating in a Swedish family was tested for linkage to 13 previously reported candidate loci for hearing disabilities. READ MORE

  4. 22. Genetic Risk Factors for Cervical Carcinoma in situ

    Author : Anna Beskow; Peter L Stern; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Cervical carcinoma; human papillomavirus; viral load; long-term infection; HLA class II; p53; E6 variant; Genetik; Clinical genetics; Klinisk genetik; Medical Genetics; medicinsk genetik;

    Abstract : Oncogenic human papillomaviruses (HPVs) are implicated in 99.7 % of cervical cancer cases but require the co-operation of other factors. To investigate potential genetic risk factors we have typed the HLA class II DRB1 and DQB1 loci in 478 women diagnosed with cervical carcinoma in situ and in 608 age-matched controls. READ MORE

  5. 23. Molecular Genetic and DNA Methylation Profiling of Chronic Lymphocytic Leukaemia : A Focus on Divergent Prognostic Subgroups and Subsets

    Author : Nicola Cahill; Richard Rosenquist; Larry Mansouri; Fergus Ryan; Denis Alexander; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; DNA methylation; Chronic lymphocytic leukemia; SNP; array; IGHV3-21; IGHV4-34; Biology with specialization in Molecular Biology; Biologi med inriktning mot molekylärbiologi; Genetics; Genetik; Medical Genetics; Medicinsk genetik; Molecular Biology; Molekylärbiologi; Molekylär genetik; Molecular Genetics; Oncology; Onkologi;

    Abstract : Advancements in prognostication have improved the subdivision of chronic lymphocytic leukaemia (CLL) into diverse prognostic subgroups. In CLL, IGHV unmutated and IGHV3-21 genes are associated with a poor-prognosis, conversely, IGHV mutated genes with a favourable outcome. READ MORE

  6. 24. Genomic strategies towards the dissection of human complex disease

    Author : Tesfai Emahazion; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Mapping; complex disease; polymorphism; SNP; association analysis; Alzheimer s disease; oxidative phosphorylation; apoptosis; Genetik; Clinical genetics; Klinisk genetik; Medical Genetics; medicinsk genetik;

    Abstract : Complex diseases are caused by the activities of many genes acting in concert with environmental factors. A major challenge facing human genetic research is to unravel the genetic factors behind complex disorders. READ MORE

  7. 25. Expression profiling using manifold supports

    Author : Anette Hagberg; Joakim Lundeberg; Uppsala universitet; []
    Keywords : 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;

    Abstract : 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. READ MORE