Sökning: "Chromosome aberrations"

Visar resultat 1 - 5 av 100 avhandlingar innehållade orden Chromosome aberrations.

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

   Författare :Magdalena Benetkiewicz; Jan Dumanski; Niklas Dahl; Frank Speleman; Uppsala universitet; []
   Nyckelord :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;

   Sammanfattning : 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. LÄS MER

3. 2. Mitotic aberrations in mammalian cells

   Författare :Anna Renglin Lindh; Thomas Helleday; Micheline Kirsch-Volders; Stockholms universitet; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; aneuploidy; mitotic aberrations; chemical effects; human cancer; DNA repair; Genetics; Genetik;

   Sammanfattning : Almost all cancer cells are aneuploid showing the wrong chromosome number and often with structural aberrations. The degree of aneuploidy correlates with an increase of the severity of the disease and tumour cells with chromosomal instability are more prone to acquire resistance to chemotherapy than other cells. LÄS MER

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

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

   Sammanfattning : 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. LÄS MER

5. 4. Chromosome aberrations and environmental exposures in acute leukemia

   Författare :Ragnhild Rosengren Lindquist; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :Acute leukemia; chromosome 3; chromosome 8; fragile site; occupational exposure; mutagen exposure; case-control study; trisomy; benzene; organic solvent; petroleum; epidemiology; environmental carcinogens; painter; driver;

   Sammanfattning : The aims of this thesis are to evaluate the role of environmental exposures, especially professional exposure to organic solvents and petroleum products in the etiology of acute leukemia and to investigate if there is a correlation between the exposure to a specific leukemogen factor and a clonal chromosome aberration of the leukemic cells. Papers I and II present results of a case-control study of environmental exposures, in all occupations during life-time, medical treatments with medicines, chemotherapy and radiation, tobacco-use and the exposure to chemical compounds in private life in 120 patients with acute leukemia and of 120 controls, matched for age (+ 4 years), residence and sex. LÄS MER

7. 5. Characterization of chromosome abnormalities

   Författare :Anna Lindstrand; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : 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. LÄS MER