Search for dissertations about: "extended pedigree"

Showing result 1 - 5 of 6 swedish dissertations containing the words extended pedigree.

  2. 1. Genetic studies of stroke in Northern Sweden

    Author : Sofie Nilsson Ardnor; Dan Holmberg; Jan Hillert; Umeå universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; stroke; linkage; genome wide scan; susceptibility loci; association; candidade gene; PDE4D; PIK3R1; extended pedigree; Medical genetics; Medicinsk genetik;

    Abstract : Stroke is a common disorder of later life with a complex etiology, including both environmental and genetic risk factors. The inherited predisposition is challenging to study due to the complexity of the stroke phenotype. READ MORE

  4. 2. Epidemiological and genetic studies of muliple sclerosis with focus on the Swedish county of Värmland

    Author : Margarita Callander; Anders Svenningsson; Linköpings universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Inborn genetic diseases; Genetic predisposition to disease; Genetic predisposition to disease; Cluster analysis; Muliple sclerosis; Pedigree; Medical genetics; Medicinsk genetik;

    Abstract : The aim of this study was to perform detailed investigations of a presumed high-risk area, namely the county of Värmland, to see if previous results from our group indicating a high frequency of multiple sclerosis (MS) could be confirmed. We soon identified an aggregation of MS cases in the parish of Lysvik located in the north of Värmland and initiated epidemiological and genetical analyses of the population. 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. Development of Variance Component Methods for Genetic Dissection of Complex Traits

    Author : Francois Besnier; Örjan Calborg; Miguel Perez-Enciso; Uppsala universitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; Bioinformatics; Bioinformatik; Genetik; Genetics;

    Abstract : This thesis presents several developments on Variance component (VC) approach for Quantitative Trait Locus (QTL) mapping. The first part consists of methodological improvements: a new fast and efficient method for estimating IBD matrices, have been developed. READ MORE

  7. 5. Pointwise and Genomewide Significance Calculations in Gene Mapping through Nonparametric Linkage Analysis: Theory, Algorithms and Applications

    Author : Lars Ängquist; Matematisk statistik; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; programming; actuarial mathematics; Statistik; cytogenetics; Genetik; cytogenetik; Mathematics; Matematik; Statistics; operations research; Genetics; ROC curves; conditioning loci; optimal score functions; noncentrality parameter; cost adjusted relative efficiency; exponential tilting; importance sampling; Monte Carlo simulation; normal approximation; crossover rate; process maximum; analytical approximation; significance calculations; NPL score; conditional linkage analysis; two-locus linkage analysis; Allele sharing; aktuariematematik; operationsanalys; programmering; gene-gene interaction; composite hypotheses; genetic disease models; classes of score functions; nonparametric linkage analysis;

    Abstract : In linkage analysis or, in a wider sense, gene mapping one searches for disease loci along a genome. This is done by observing so called marker genotypes (alleles) and phenotypes (affecteds/unaffecteds) of a pedigree set, i.e. READ MORE