Sökning: "chromosome aberration"

Visar resultat 1 - 5 av 30 avhandlingar innehållade orden chromosome aberration.

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

    Författare :Stefan Nivall; Chalmers University of Technology; []
    Nyckelord :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

  2. 2. Genetic and epigenetic characterization of pediatric high hyperdiploid acute lymphoblastic leukemia

    Författare :Josef Davidsson; Avdelningen för klinisk genetik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; high hyperdiploid ALL; children; chromosome aberration; methylation profiling; array CGH; relapse; SNP array; clonal relationship; dup 1q ;

    Sammanfattning : The aim of this thesis was to analyze the genetic and epigenetic characteristics of pediatric high hyperdiploid acute lymphoblastic leukemia (HeH ALL), the most common type of childhood malignancy. The three original articles presented in this thesis have addressed three major questions regarding HeH ALL: what are the genetic characteristics of the most common structural abnormality – dup(1q)? Are aberrant methylation patterns involved in leukemogenesis? How do diagnostic and relapse samples relate to each other genetically? In article I we found that the proximal breakpoints of dup(1q)-positive Burkitt lymphomas (BL) and pediatric HeH ALLs cluster close to the centromere, suggesting this region to be breakprone, and that five genes on 1q were significantly overexpressed and thus potentially pathogenetically important. LÄS MER

  3. 3. Trisomies in Hematologic Malignancies

    Författare :Kajsa Paulsson; Avdelningen för klinisk genetik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Clinical genetics; Klinisk genetik; cytogenetik; Genetik; cytogenetics; Genetics; leukemia; chromosome aberration; trisomy;

    Sammanfattning : Acquired clonal chromosome aberrations, closely associated with leukemogenesis, are found in many hematologic malignancies. Although the balanced rearrangements, such as translocations and inversions, are the ones most commonly thought of in the context of leukemias, gains of chromosomes ? e.g.. LÄS MER

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

    Författare :Ragnhild Rosengren Lindquist; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; 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

  5. 5. Case-control studies on risk factors for myeloid leukemias and myelodysplastic syndromes

    Författare :Jonas Björk; Avdelningen för arbets- och miljömedicin; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; epidemiologic methods; bias epidemiology ; attributable fraction; smoking; hobbies; occupational exposure; chromosome aberrations; epidemiology; cytogenetic; Occupational health; industrial medicine; Yrkesmedicin; arbetsmiljömedicin;

    Sammanfattning : Case-control studies comprising telephone interviews for 333 cases of acute myeloid leukemia (AML), 226 cases of Philadelphia chromosome-positive chronic myeloid leukemia (Ph+ CML), 330 cases of myelodysplastic syndromes (MDS), and matched controls were conducted. Information had to be obtained from next-of-kin much more often for cases (85%) than for controls (18%). LÄS MER