Molecular analysis of the cyclin-dependent kinase inhibitor genes, p15, p16, p18 and p19 in the myelodysplastic syndromes.

摘要: The myelodysplastic syndromes (MDS) are a heterogeneous group of clonal blood disorders characterized by dyshematopoiesis with frequent evolution to acute leukemia. Chromosomal deletions rather than translocations the predominant karyotypic abnormalities in MDS, suggesting recessive mechanism pathogenesis such as inactivation tumor suppressor genes. A cyclin-dependent kinase inhibitors, p15 (INK4B), p16 (INK4A), p18 (INK4C) and p19 (INK4D), candidate To determine whether genetic alterations these genes play an important role development and/or progression we examined 46 samples from MDS patients Southern blotting, single-strand-conformation polymorphism (SSCP) using polymerase chain reaction (PCR) sequencing DNA. These included 13 refractory anemias (RA), four ringed sideroblasts (RARS), 16 excess blasts (RAEB), eight transformation (RAEB-T) five chronic myelomonocytic leukemia (CMMoL) samples. Except for allelic polymorphisms or silent point mutations, no coding regions CDKI were identified. In summary, p15, p16, rare events MDS.