Sökning: "mutation analysis"

Visar resultat 1 - 5 av 434 avhandlingar innehållade orden mutation analysis.

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

    Författare :Anna Sillén; Uppsala universitet; []
    Nyckelord :MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; 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

  2. 2. Approaches for analysis of mutations and genetic variations

    Författare :Afshin Ahmadian; KTH; []
    Nyckelord :LOH; microsatellite; fragment analysis; DNA sequencing; pyrosequencing; cancer; mutation; variation; SNP; allele-specific extension; apyrase; TECHNOLOGY; TEKNIKVETENSKAP;

    Sammanfattning : Detecting mutations and genomic variations is fundamental indiagnosis, isolating disease genes, association studies,functional genomics and pharmacogenomics. The objective hasbeen to use and further develop a variety of tools andtechnologies to analyze these genetic alterations andvariations. LÄS MER

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

    Författare :Annika Bergman; Göteborgs universitet; Göteborgs universitet; Gothenburg University; []
    Nyckelord :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

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

    Författare :Annika Winbo; Annika Rydberg; Eric Schulze-Bahr; Umeå universitet; []
    Nyckelord :MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; 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; Pediatrics; pediatrik;

    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

  5. 5. Bioinformatic Analysis of Mutation and Selection in the Vertebrate Non-coding Genome

    Författare :Mikael Brandström; Hans Ellegren; Diethard Tautz; Uppsala universitet; []
    Nyckelord :Biology; non-coding genome; selection; mutation; chicken; human; indel; microsatellite; sequence alignment; comparative genomics; bioinformatics; vertebrate; Biologi;

    Sammanfattning : The majority of the vertebrate genome sequence is not coding for proteins. In recent years, the evolution of this noncoding fraction of the genome has gained interest. These studies have been greatly facilitated by the availability of full genome sequences. LÄS MER