12th Annual Scientific Meeting of the Irish Society of Human Genetics, Friday 18th September 2009
نویسندگان
چکیده
address: " Mapping complex traits-The human and canine genetic systems " Donor cell neoplasms (DCN) are a rare entity, and the vast majority reported are either AML or ALL. We report two new cases (males, aged 25 and 43) that had an allogeneic SCT from female related donors in first CR following an initial diagnosis of AML and ALL and respectively. Both patients, approximately 5 years following transplant, represented with neoplastic disease which was shown to be of donor cell origin by cytogenetic methods. For patient 1, the AML showed an apparently normal karyotype. Following the occurrence of new myeloid-lineage related irregularities, a bone marrow aspirate displayed features of MDS/CMML. Cytogenetic analysis revealed a 45,XX,-7 karyotype, thereby proving the donor cell origin of disease. Cytogenetic analysis was not performed on the ALL of patient 2. On representation with lymphadenopathy the bone marrow morphology was consistent with a diagnosis of DLBCL. Conventional cytogenetics was not possible, however, FISH analyses showed a MYC rearrangement and all cells had an XX sex chromosome complement. Both these patients are unusual in that their diseases have been seldom reported as donor cell neoplasms. This study demonstrates that in patients with a possible disease relapse following an allogeneic SCT a DCN also needs to be considered. S02. Determination of the contribution of H63D/H63D genotype to iron overload, and validation of a dual hybridisation probe assay for detecting HFE genes. Hereditary haemochromatosis (HH), a disorder of iron metabolism, is caused by mutations in the HFE gene. Most patients are homozygous for the C282Y mutation, or compound heterozygotes for C282Y and H63D. The contribution of the H63D/H63D genotype to iron overload is not well characterised. We determined the prevalence of this genotype in 520 query affected HH patients (presenting with transferrin saturation >45%) in order to measure the contribution of this genotype to iron overload in the Irish population. Results were compared to the prevalence in 520 blood donors, as HH patients were excluded from donating blood in Republic of Ireland at the time of collection. We found that the H63D/H63D genotype was significantly over-represented in the iron overload group. The allele frequencies for all HFE mutations were found to be higher than previous estimates, indicating that only 51% of the Irish population have a normal genotype at this locus. A novel HH assay for the detection of HFE mutations using HybProbes on the Roche LightCycler was validated …
منابع مشابه
11th Meeting of the Irish Society of Human Genetics, Friday 12th September 2008
11th Meeting of the Irish Society of Human Genetics, Friday 12th September 2008 Institute of Molecular Medicine, St. James’s Hospital, Dublin.
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