Sökning: "chromosome aberration"
Visar resultat 1 - 5 av 30 avhandlingar innehållade orden chromosome aberration.
1. Image Analysis Techniques for Segmentation, Classification and Presentation of High-Resolution Prometaphase Chromosome
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. Genetic and epigenetic characterization of pediatric high hyperdiploid acute lymphoblastic leukemia
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
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
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
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