Sökning: "trinucleotide repeat disorder"
Visar resultat 1 - 5 av 8 avhandlingar innehållade orden trinucleotide repeat disorder.
1. Trinucleotide repeats and neuropsychiatric phenotypes
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
2. Fuchs’ endothelial corneal dystrophy : Genetic aetiology and as a risk factor in cataract surgery
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
3. Genomic studies of expanded trinucleotide repeats : focus on neuropsychiatric disorders
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. Molecular genetic studies on Huntington disease
Sammanfattning : Huntington disease (HD) is an autosomal dominant neurodegenerative disorder associated with an expanded trinucleotide repeat (CAG). Prior to the gene identification in 1993, linkage analysis was used for predictive testing for at-risk individuals. LÄS MER
5. Gene expression profiles at the myotonic dystrophy 1 locus : possible role in disease mechanisms
Sammanfattning : Myotonic dystrophy 1 (DM1) is the commonest adult onset muscular dystrophy, (prevalence 1/8000). The disorder is characterized by anticipation (earlier onset in successive generations, which is accompanied in this disorder by an increase in severity of symptoms) and variable multisystemic symptom presentation. LÄS MER