Search for dissertations about: "chromosome number"

Showing result 1 - 5 of 216 swedish dissertations containing the words chromosome number.

  2. 1. Development and Application of Human Chromosome 22 Genomic Microarray : Chromosome 22-Associated Disorders Analyzed by Array-Based Comparative Genomic Hybridization

    Author : Magdalena Benetkiewicz; Jan Dumanski; Niklas Dahl; Frank Speleman; Uppsala universitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; Molecular genetics; DNA copy number changes; chromosome 22; genomic microarray; array-CGH; schwannoma; neurofibromatosis type 2; ovarian carcinoma; breast cancer; Wilms tumor; Genetik; Genetics; Genetik;

    Abstract : The array-based form of comparative genomic hybridization (array-CGH) is a new methodology that has shown to be of significant importance. This thesis focuses on the development of array-CGH with the aim to define candidate regions/genes on chromosome 22 in a wide spectrum of cancer-related conditions. READ MORE

  4. 2. Image Analysis Techniques for Segmentation, Classification and Presentation of High-Resolution Prometaphase Chromosome

    Author : Stefan Nivall; Chalmers tekniska högskola; []
    Keywords : TEKNIK OCH TEKNOLOGIER; ENGINEERING AND TECHNOLOGY; aberration; segmentation; digital image analysis; high-resolution CCD camera; classification; prometaphase; chromosome; database;

    Abstract : The extraction, analysis, and presentation of integrated optical density (IOD) profiles from banded prometaphase chromosome material is an increasingly important clinical method for the detection and analysis of structural aberrations. Particular translocations, duplications, or deletions of genetic material have been shown to be implicated in specific mental or physical disorders. READ MORE

  5. 3. Characterization of chromosome abnormalities

    Author : Anna Lindstrand; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : Inborn chromosome abnormalities are a frequent cause of mental retardation and birth defects. Apart from aberrations that are visible in the microscope, a number of submicroscopic alterations have recently been discovered, and all of these chromosome changes are in fact the result of DNA alterations at the molecular level. READ MORE

  6. 4. Evolutionary Studies of the Mammalian Y Chromosome

    Author : Linda Hellborg; Hans Ellegren; Terry Burke; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Y chromosome; field vole; cattle; selection; primer design; Genetik; Clinical genetics; Klinisk genetik;

    Abstract : Sex chromosomes are useful in elucidating the evolutionary factors affecting diversity and divergence. In particular, Y chromosome analyses may complement studies using mitochondrial DNA for inferring sex-specific population genetic processes. READ MORE

  7. 5. Modelling Allelic and DNA Copy Number Variations using Continuous-index Hidden Markov Models

    Author : Susann Stjernqvist; Matematisk statistik; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; Hidden Markov models; DNA copy number; allelic copy number; Markov chain Monte Carlo;

    Abstract : In human cells there are usually two copies of each chromosome, but in cancer cells abnormalities could exist. The differences consist of segments of chromosomes with an altered number of copies. There can be deletions as well as amplifications and the lengths of the segments can also vary. READ MORE