Sökning: "de novo mutations"

Visar resultat 1 - 5 av 43 avhandlingar innehållade orden de novo mutations.

  1. 1. Genotype/ phenotype correlation of two neuropsychiatric diseases. A genetic study of CDG1a and Rett syndrome

    Författare :Anna Erlandson; Göteborgs universitet; []
    Nyckelord :CDG 1a; PMM2; Rett syndrome; MECP2; mutations; genotype phenotype; DHPLC; MLPA;

    Sammanfattning : The aim of this thesis was to investigate the effects of mutations in the genes that cause the two neuropsychiatric diseases congenital disorder of glycosylation (CDG) type Ia and Rett syndrome. These two diseases affect children's central and peripheral nervous systems, causing mental retardation and neuronal impairment. LÄS MER

  3. 2. Hopeful monsters: The role of hybrids in adaptation : The impact of hybridisation and genetic diversity on adaptation to stressful and novel environments

    Författare :Ciaran Gilchrist; Rike Stelkens; Christopher Wheat; Linda Laikre; Mathilde Cordellier; Stockholms universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Experimental evolution; Saccharomyces cerevisiae; population genetics; hybridisation; adaptation; aneuploidy; comparative genomics; evolve-and-resequence; de novo mutations; evolutionary parallelism; populationsgenetik; Population Genetics;

    Sammanfattning : Adaptation to novel environments can only occur if natural selection has the raw material to act upon. But small, endangered populations are often genetically depleted, and the acquisition of beneficial de novo mutations often takes too long when population face quick and extreme environmental change. LÄS MER

  4. 3. Mechanisms of Antibiotic Resistance Evolution

    Författare :Michael Knopp; Dan Andersson; Anca Segall; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Antibiotic resistance evolution; Escherichia coli; Salmonella; porins; fitness; epistasis; strain-specificity; sub-MIC; de novo gene evolution;

    Sammanfattning : The continuing emergence and spread of antibiotic resistant bacteria are a threat to various applications in modern medicine and impose a strong economic burden on health systems. The development of new antibiotics is slow and cannot counterbalance the dissemination of resistant bacteria. LÄS MER

  5. 4. Genomic studies of sex differences : On mutations, recombination, and sexual antagonism in songbirds

    Författare :Hongkai Zhang; MEMEG; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; sex differences; mutation; recombination; sexual conflict; sexual antagonism; sexually antagonistic selection; Great reed warbler; Acrocephalus arundinaceus;

    Sammanfattning : Many organisms have separate sexes, i.e., males and females. The presence of separate sexes causes sex-specific selection regimes and sexual antagonism, which can lead to sex differences in morphology, physiology, and behaviours. LÄS MER

  7. 5. Measurable residual disease and clonal evolution in acute myeloid leukemia with focus on NPM1-mutations

    Författare :Louise Pettersson; Lund Patologi; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; AML; MRD; Measurable residual disease; NPM1; NPM1-mutation; NPM1 type A mutation; clonal evolution; clonal patterns; subclones; genetic evolution; qPCR; RQ-PCR; ddPCR; deep seq; deep sequencing; NGS; RT-qPCR; old; elderly; MFC; flow cytometry;

    Sammanfattning : Acute myeloid leukemia (AML) is the most common form of acute leukemia in adults, with mutations in the NPM1 gene occurring in almost one third of all cases. The ability to detect residual leukemia below the resolution of conventional microscopy is crucial for evaluation of relapse risk after therapy. LÄS MER