Sökning: "expanded trinucleotide repeats"

Hittade 3 avhandlingar innehållade orden expanded trinucleotide repeats.

  1. 1. Trinucleotide repeats and neuropsychiatric phenotypes

    Författare :Qiu-Ping Yuan; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Trinucleotide; repeat expansion; psychiatric disorder; gene; spastic paraplegia;

    Sammanfattning : Genetic studies of affective disorders have yielded several chromosomal regions suggestive for linkage. Linkage analysis was performed in five families with unipolar affective disorder, collected from northern Sweden. Four candidate regions on chromosomes 16, 18, 21 and 4p were excluded. LÄS MER

  3. 2. Genomic studies of expanded trinucleotide repeats : focus on neuropsychiatric disorders

    Författare :Kerstin Lindblad; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :affective disorder; CTG18.1; DNA; ERDA1; expanded trinucleotide repeats; gene isolation; mutation; Parkinson s disease; repeat expansion detection; repeat instability; spinocerebellar ataxia;

    Sammanfattning : In a number of neurological and neuropsychiatric disorders, a worsening of the disease phenotype from one generation to the next has been linked to expanded trinucleotide repeat sequences that increase in size upon transmission. The clinical phenomenon of an earlier age of onset or a more severe phenotype in later generations of a family has been termed anticipation. LÄS MER

  4. 3. Studies of polyglutamine repeats and their biology in relation to disease

    Författare :Cecilia Zander; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :trinucleotide repeat; polyglutamine; autosomal dominant spinocerebellar ataxia; repeat expansion detection; spastic paraplegia; autophagy; inclusions;

    Sammanfattning : Polyglutamine repeat expansions of the CAG/CTG type frequently lead to disease characterized by progressive neuronal dysfunction. These diseases typically begins in mid-life and result in severe neurodegeneration. To a certain extent they present with similar features and probably share a common mechanism of pathogenesis. LÄS MER