Sökning: "haplotype analysis"

Visar resultat 1 - 5 av 138 avhandlingar innehållade orden haplotype analysis.

  1. 1. Two Optimization Problems in Genetics : Multi-dimensional QTL Analysis and Haplotype Inference

    Författare :Carl Nettelblad; Sverker Holmgren; José M. Álvarez-Castro; Jukka Corander; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; quantitative trait loci; genome-wide association studies; hidden Markov models; numerical optimization; linkage analysis; haplotype inference; genotype imputation; high performance computing;

    Sammanfattning : The existence of new technologies, implemented in efficient platforms and workflows has made massive genotyping available to all fields of biology and medicine. Genetic analyses are no longer dominated by experimental work in laboratories, but rather the interpretation of the resulting data. LÄS MER

  3. 2. Application of Mitochondrial DNA Analysis in Contemporary and Historical Samples

    Författare :Maria Lembring; Marie Allen; Niels Morling; Uppsala universitet; []
    Nyckelord :Forensic genetics; Mitochondrial DNA; HVI HVII; Population database; Haplotype; Haplogroup; Ancient DNA; Historical DNA samples; skeletal remains; Vasa museum; Medieval samples; Copernicus; Göring; Genetik; Genetics;

    Sammanfattning : The mitochondrion is a tiny organelle that is the power supplier of the cell and vital to the functioning of the body organs. Additionally it contains a small circular genome of about 16 kb, present in many copies which makes the mitochondrial DNA more viable than nuclear DNA. LÄS MER

  4. 3. Exploring the Genetics of SLE with Linkage and Association Analysis

    Författare :Cecilia Johansson; Marta Alarcón-Riquelme; Peter Gregersen; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Molecular genetics; Systemic lupus erythematosus; complex disease; linkage analysis; association analysis; Genetik; Genetics; Genetik;

    Sammanfattning : The aim with this thesis has been to identify genes involved in the pathogenesis of Systemic Lupus Erythematosus (SLE). SLE is a systemic autoimmune disorder, most likely caused by both several genetic and environmental factors. LÄS MER

  5. 4. Haemophilia in Sweden – Studies on mutations and clinical implications

    Författare :Annika Mårtensson; Enheten för pediatrisk hematologi; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; haemophilia; factor VIII; factor IX; factor 8 gene; factor 9 gene; carriers; prenatal diagnosis; mutations; inhibitors; haplotype;

    Sammanfattning : Introduction: Haemophilia A (HA) and B (HB) are two of our most common inherited bleeding disorders and are due to a variety of gene mutations. Aims: The overall objective of the present research was to perform clinical and basic scientific studies on haemophilia in Sweden to further improve and individualise the care of haemophilia patients and their relatives. LÄS MER

  7. 5. Genetic Mapping of Susceptibility Genes for Systemic Lupus Erythematosus

    Författare :Bo Johanneson; Jean Pierre Hugot; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Molecular genetics; Association analysis; Candidate gene; Complex disease; Genome scan; Linkage analysis; Mapping; Susceptibility genes; Systemic lupus erythematosus; Genetik; Genetics; Genetik; medicinsk genetik; Medical Genetics;

    Sammanfattning : Systemic lupus erythematosus (SLE) is a complex autoimmune disease with unknown etiology. The aim of this thesis was to identify susceptibility regions through genetic mapping, using model-based linkage analysis on nuclear and extended SLE multicase families. LÄS MER