Search for dissertations about: "large pedigree"

Showing result 1 - 5 of 23 swedish dissertations containing the words large pedigree.

  2. 1. Genetic studies of schizophrenia

    Author : Eva Lindholm; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Schizophrenia; complex diseases; mitochondria; large pedigree; linkage analysis; Genetik; Clinical genetics; Klinisk genetik; Genetics; genetik;

    Abstract : The prevalence of schizophrenia is about 1% throughout the world. The disease is characterized by symptoms such as hallucinations, delusions and bizarre behavior. A genetic contribution to the disease was previously shown through epidemiological studies. The mitochondrial DNA was sequenced in four schizophrenic patients. READ MORE

  4. 2. Detecting Deletions by Analysis of Genetic Markers in Pedigrees

    Author : Anna Johansson; Biologiska institutionen; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; cytogenetics; Genetik; Genetics; Biologi; genetic marker; pedigree; Protein S deficiency; Biology; PROS1; deletion; null allele; cytogenetik;

    Abstract : A deletion is defined as a missing piece of a chromosome, ranging in size from as small as a single base pair to as much as an entire arm of a chromosome. Deletions can cause diseases, but may also have a neutral effect in the genome. READ MORE

  5. 3. Finding Genes for Schizophrenia

    Author : Karolina Åberg; Elena Jazin; Eva Lindholm; Eric Sobel; Uppsala universitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; psychiatric genetics; QKI; large pedigree; haplotype investigation; mRNAexpression; genetic linkage; myelin; HTR2C; Biology; Biologi;

    Abstract : Schizophrenia is one of our most common psychiatric diseases. It severely affects all aspects of psychological functions and results in loss of contact with reality. No cure exists and the treatments available today produce only partial relief for disease symptoms. READ MORE

  6. 4. Dynamics of inbreeding and genetic rescue in a small population

    Author : Malin Hasselgren; Karin Norén; Carles Vilà; Stockholms universitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; inbreeding; inbreeding depression; genetic rescue; fitness; genomics; conservation genetics; mutational load; arctic fox; pedigree; gene flow; zoologisk ekologi; Animal Ecology;

    Abstract : Isolation at small population size can reduce individual fitness and impede population growth caused by inbreeding and genetic drift (i.e. inbreeding depression). Inbreeding depression can however be circumvented by gene flow from unrelated individuals through masking of recessive deleterious alleles and contribute to population persistence (i. READ MORE

  7. 5. Gene Mapping in Ficedula Flycatchers

    Author : Niclas Backström; Hans Ellegren; Juha Merilä; Uppsala universitet; []
    Keywords : collared flycatcher; SNP; linkage disequilibrium; genetic map; pedigree;

    Abstract : In order to get full understanding of how evolution proceeds in natural settings it is necessary to reveal the genetic basis of the phenotypic traits that play a role for individual fitness in different environments. There are a few possible approaches, most of which stem from traditional mapping efforts in domestic animals and other model species. READ MORE