Molecular studies in myelodysplastic syndromes

This thesis describes molecular studies of myelodysplastic syndromes (MDS). The first question was if high-dose chemotherapy could induce polyclonal remission. Disease clonality was investigated with karyotyping in patients with large chromosomal aberrations and determination of X-chromosome inactivation patterns (XCIP) in female patients. These investigations were performed at diagnosis and in clinical complete remission. The biological background of non-random XCIPs in healthy female donors was investigated and improved methods for determination of XCIPs were developed. A second question was the involvement of the WT1 gene in MDS. This gene is highly expressed in acute myeloid leukemia (AML) but not in normal bone marrow (BM). The involvement of WT1 in MDS was investigated by looking at the expression patterns in various cell lineages in MDS bone marrow (BM