Molecular cytogenetic delineation of the critical deleted region in the 5q- syndrome.
The 5q- syndrome is a distinct type of myelodysplastic syndrome (MDS) characterised by refractory anaemia, morphological abnormalities of megakaryocytes, and del(5q) as the sole cytogenetic abnormality. In contrast to patients with therapy-related MDS with 5q deletions, 5q- syndrome patients have a...
| Päätekijät: | , , , , , , , , , , |
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| Aineistotyyppi: | Journal article |
| Kieli: | English |
| Julkaistu: |
1998
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| _version_ | 1826295393851277312 |
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| author | Jaju, R Boultwood, J Oliver, F Kostrzewa, M Fidler, C Parker, N McPherson, J Morris, S Müller, U Wainscoat, J Kearney, L |
| author_facet | Jaju, R Boultwood, J Oliver, F Kostrzewa, M Fidler, C Parker, N McPherson, J Morris, S Müller, U Wainscoat, J Kearney, L |
| author_sort | Jaju, R |
| collection | OXFORD |
| description | The 5q- syndrome is a distinct type of myelodysplastic syndrome (MDS) characterised by refractory anaemia, morphological abnormalities of megakaryocytes, and del(5q) as the sole cytogenetic abnormality. In contrast to patients with therapy-related MDS with 5q deletions, 5q- syndrome patients have a favourable prognosis and a low rate of transformation to acute leukaemia. We have previously delineated a common deleted region of 5.6 Mb between the gene for fibroblast growth factor acidic (FGF1) and the subunit of interleukin 12 (IL12B) in two patients with 5q- syndrome and small deletions, del(5)(q31q33). The present study used fluorescence in situ hybridisation (FISH) analysis of these and a third 5q- syndrome patient with a small deletion, del(5)(q33q34), to refine further the critical deleted region. This resulted in the narrowing of the common deleted region within 5q31.3-5q33 to approximately 3 Mb, flanked by the adrenergic receptor beta 2 (ADRB2) and IL/2B genes. The common region of loss in these three 5q- syndrome patients includes the macrophage colony-stimulating factor-1 receptor (CSF1R), secreted protein, acidic, cysteine-rich (SPARC), and glutamate receptor (GR1A1) genes. This 5q- syndrome critical region is telomeric to and distinct from the other critical regions on 5q associated with MDS and acute myeloid leukaemia. |
| first_indexed | 2024-03-07T04:00:20Z |
| format | Journal article |
| id | oxford-uuid:c45a049a-a824-40db-96da-18f09554df16 |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-07T04:00:20Z |
| publishDate | 1998 |
| record_format | dspace |
| spelling | oxford-uuid:c45a049a-a824-40db-96da-18f09554df162022-03-27T06:22:49ZMolecular cytogenetic delineation of the critical deleted region in the 5q- syndrome.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:c45a049a-a824-40db-96da-18f09554df16EnglishSymplectic Elements at Oxford1998Jaju, RBoultwood, JOliver, FKostrzewa, MFidler, CParker, NMcPherson, JMorris, SMüller, UWainscoat, JKearney, LThe 5q- syndrome is a distinct type of myelodysplastic syndrome (MDS) characterised by refractory anaemia, morphological abnormalities of megakaryocytes, and del(5q) as the sole cytogenetic abnormality. In contrast to patients with therapy-related MDS with 5q deletions, 5q- syndrome patients have a favourable prognosis and a low rate of transformation to acute leukaemia. We have previously delineated a common deleted region of 5.6 Mb between the gene for fibroblast growth factor acidic (FGF1) and the subunit of interleukin 12 (IL12B) in two patients with 5q- syndrome and small deletions, del(5)(q31q33). The present study used fluorescence in situ hybridisation (FISH) analysis of these and a third 5q- syndrome patient with a small deletion, del(5)(q33q34), to refine further the critical deleted region. This resulted in the narrowing of the common deleted region within 5q31.3-5q33 to approximately 3 Mb, flanked by the adrenergic receptor beta 2 (ADRB2) and IL/2B genes. The common region of loss in these three 5q- syndrome patients includes the macrophage colony-stimulating factor-1 receptor (CSF1R), secreted protein, acidic, cysteine-rich (SPARC), and glutamate receptor (GR1A1) genes. This 5q- syndrome critical region is telomeric to and distinct from the other critical regions on 5q associated with MDS and acute myeloid leukaemia. |
| spellingShingle | Jaju, R Boultwood, J Oliver, F Kostrzewa, M Fidler, C Parker, N McPherson, J Morris, S Müller, U Wainscoat, J Kearney, L Molecular cytogenetic delineation of the critical deleted region in the 5q- syndrome. |
| title | Molecular cytogenetic delineation of the critical deleted region in the 5q- syndrome. |
| title_full | Molecular cytogenetic delineation of the critical deleted region in the 5q- syndrome. |
| title_fullStr | Molecular cytogenetic delineation of the critical deleted region in the 5q- syndrome. |
| title_full_unstemmed | Molecular cytogenetic delineation of the critical deleted region in the 5q- syndrome. |
| title_short | Molecular cytogenetic delineation of the critical deleted region in the 5q- syndrome. |
| title_sort | molecular cytogenetic delineation of the critical deleted region in the 5q syndrome |
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