Sökning: "trinucleotide repeat"

Visar resultat 1 - 5 av 14 avhandlingar innehållade orden trinucleotide repeat.

  1. 1. Parallel target selection by trinucleotide threading

    Författare :Pawel Zajac; Joakim Lundeberg; Afshin Ahmadian; Mats Nilsson; KTH; []
    Nyckelord :TEKNIK OCH TEKNOLOGIER; ENGINEERING AND TECHNOLOGY; trinucleotide threading; multiplex amplification; expression profiling; microarray; generic tag; short tandem repeat; microsatellite; electrophoresis; single nucleotide polymorphism; allelotyping; 454; Pyrosequencing; Genetic engineering including functional genomics; Genteknik inkl. funktionsgenomik;

    Sammanfattning : DNA is the code for all life. Via intermediary RNA the information encoded by the genome is relayed to proteins executing the various functions in a cell. Together, this repertoire of inherently linked biological macromolecules determines all characteristics and features of a cell. LÄS MER

  3. 2. 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

  4. 3. Antibody Evolution and Repertoire Development

    Författare :Johan Lantto; Institutionen för immunteknologi; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Immunology; serology; transplantation; Immunologi; serologi; virus neutralization; trinucleotide repeat; insertion; immunoglobulin variable genes; human cytomegalovirus; glycoprotein B; deletion; antibody; antibody repertoire;

    Sammanfattning : Antibodies are key players of the immune system in higher vertebrates, which provide a defense against potentially lethal threats from the environment. Besides their importance in the immune defense, antibodies have a great potential as reagents in biological chemistry and diagnostics, and as therapeutic agents against both infectious diseases and cancer. LÄS MER

  5. 4. Fuchs’ endothelial corneal dystrophy : Genetic aetiology and as a risk factor in cataract surgery

    Författare :Andreas Viberg; Berit Byström; Irina Golovleva; Patrik Danielson; Madeleine Zetterberg; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Fuchs’ endothelial corneal dystrophy; genetics; TCF4; trinucleotide repeat disorder; registry-based study; cataract surgery; outcome; PROM; corneal transplantation; dense cataract; posterior capsule rupture; oftalmiatrik; ophthalmology; Clinical Genetics; klinisk genetik;

    Sammanfattning : Fuchs’ endothelial corneal dystrophy (FECD) is a bilateral, often hereditary degenerative corneal disease, in which the disrupted endothelial cell function causes corneal swelling and reduced vision. An early clinical sign of FECD is corneal guttata, an irregularity of the endothelial layer. LÄS MER

  7. 5. 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