Sökning: "founder mutation"

Visar resultat 1 - 5 av 39 avhandlingar innehållade orden founder mutation.

1. 1. Long QT syndrome in Sweden : founder effects and associated cardiac phenotypes

   Författare :Annika Winbo; Annika Rydberg; Eric Schulze-Bahr; Umeå universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Long QT Syndrome; Jervell and Lange-Nielsen Syndrome; inherited arrhythmia; founder effects; clinical genetics; haplotype analysis; mutation age; founder mutation; clinical phenotype; life-threatening cardiac events; mutation-specific; KCNQ1 gene; modifier genes; sequence variants; risk stratification; risk factor; gender; pediatrik; Pediatrics;

   Sammanfattning : Background: We aimed to increase the knowledge regarding the familial arrhythmogenic disorder Long QT Syndrome (LQTS) and its recessive variant Jervell and Lange-Nielsen Syndrome (JLNS) in Sweden, including prevalences and clinical phenotypes. A specific focus was directed towards two KCNQ1 mutations –p.Y111C and p. LÄS MER

3. 2. Genetic investigations of four neurological disorders : From phenotype to mutation

   Författare :Anna Sillén; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Pediatrics; genetic disease; chromosome; microsatellite; linkage analysis; mutation; Pediatrik; Paediatric medicine; Pediatrisk medicin; klinisk genetik; Clinical Genetics;

   Sammanfattning : More than 5000, more or less rare, genetic diseases are known in man. A genetic disease is in most casesinherited from one generation to the next, and is caused by a change in the genetic code, a mutation. LÄS MER

4. 3. On the genetics of hereditary breast/ovarian cancer. BRCA1, BRCA2 and beyond

   Författare :Annika Bergman; Göteborgs universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; BRCA1; BRCA2; breast cancer; hereditary cancer; founder mutation; mutation analysis; linkage analysis; genome scan; BRCAX;

   Sammanfattning : Breast cancer is the most common malignancy in women. Most of the breast cancers are sporadic with no apparent inheritance factor but about 5-10% is believed to be caused by an inherited predisposition. Aims: This thesis aimed at defining the BRCA1/2 mutation spectrum of the west Swedish population and specifically to characterize the BRCA1c. LÄS MER

5. 4. Genetic characterization of families with von Willebrand disease

   Författare :Elsa Lanke; Malmö Klinisk koagulationsmedicin; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; mutation; bleeding; coagulation; von Willebrand disease; genetics;

   Sammanfattning : von Willebrand disease (VWD) is the most common hereditary bleeding disorder. It is caused by quantitative and/or qualitative defects of the von Willebrand factor (VWF). The severity of the disease can vary considerably, as can the hereditary patterns. LÄS MER

7. 5. Genetic variation in structured populations

   Författare :Marina Rafajlovic; Göteborgs universitet; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; genetic variation; varying population size; effective population size; mutation; recombination; migration; multiple paternity; geographic structure; tests of neutrality; gene tree; species tree;

   Sammanfattning : It is widely acknowledged that the process of speciation in the presence of gene flow between different ecotypes is common in nature. However, the mechanisms underlying speciation are not understood. LÄS MER