Sökning: "variable number tandem repeat"

Visar resultat 1 - 5 av 9 avhandlingar innehållade orden variable number tandem repeat.

  1. 1. Post-zygotic Genetic Variation in Health and Disease

    Författare :Hamid Reza Razzaghian; Jan P. Dumanski; David Gisselsson Nord; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Post-zygotic genetic variation; monozygotic twins; copy number variation; single nucleotide polymorphism; variable number tandem repeat; Medical Genetics; Medicinsk genetik;

    Sammanfattning : Post-zygotic genetic variation has previously been shown in healthy individuals and linked to various disorders. The definition of post-zygotic or somatic variation is the existence of genetically distinct populations of cells in a subject derived from a single zygote. LÄS MER

  3. 2. Genome-based characterization of Neisseria meningitidis with focus on the emergent serogroup Y disease

    Författare :Bianca Törös; Hans Fredlund; Paula Mölling; Sara [Thulin] Hedberg; Per Olcén; Håkan Miörner; Örebro universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Neisseria meningitidis; meningococcal disease; serogroup Y; molecular characterization; epidemiology; genome sequencing; Biomedicin; Biomedicine;

    Sammanfattning : Neisseria meningitidis, also referred to as meningococcus, is one of the leading causes of epidemic meningitis and septicaemia worldwide. Despite modern treatment, meningococcal disease remains associated with a high mortality (about 10%). LÄS MER

  4. 3. On the influence of dopamine-related genetic variation on dopamine-related disorders

    Författare :Olle Bergman; Göteborgs universitet; []
    Nyckelord :dopamine; neurodevelopment; amygdala; schizophrenia; Parkinson s disease; social anxiety disorder; ADHD; PITX3; LMX1A; LMX1B; BDNF; DAT; SNP; genes; genetics; BDNF;

    Sammanfattning : Rationale: Dopamine synthesizing neurons are involved in a wide variety of functions. The most prominent dopamine pathways originate in the midbrain. The development, function and survival of these dopaminergic neurons are under the influence of numerous transcription and neurotrophic factors. LÄS MER

  5. 4. Molecular characterization of Mycobacterium tuberculosis complex isolates in Mozambique

    Författare :Sofia Omar Viegas; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Mozambique is one of the high burden tuberculosis (TB) and human immunodeficiency virus (HIV) countries with a prevalence of HIV infection in adults of 11.5% and an estimated TB prevalence of 559 per 100 000 population. Fifty six percent of the TB patients in Mozambique are estimated to be HIV positive. LÄS MER

  7. 5. The Monoamine Oxidase A Gene and Antisocial Outcomes : An Examination of Genetic, Epigenetic, and Environmental Factors

    Författare :David Checknita; Kent W. Nilsson; Lars Westberg; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Epigenetics; Antisocial; Genotype; Maltreatment;

    Sammanfattning : Background. Antisocial behaviour involves violation of the basic rights of others or social norms or rules. Such behaviours are indexed in diagnoses such as conduct disorder (CD) in adolescence and antisocial personality disorder (ASPD) in adulthood, which are typified by comorbidity with mood, anxiety, and substance misuse disorders. LÄS MER