title: One allele deletion of the RB1 gene in a case of refractory anemia with del(13)(q12q14): a fluorescence in situ hybridization study of the RB1 gene.
abstract: The tumor suppressor gene RB1 is known to be located on chromosome band 13q14. We investigated the involvement of the RB1 gene in a case of refractory anemia with del(13)(q12q14) by florescence in situ hybridization (FISH) analysis using the RB1 locus (13q14) DNA probe. Bone marrow cells derived from this patient exhibited a single signal of the RB1 gene in 58 of 100 bone marrow cells, as determined by interphase FISH analysis. Hematopoietic colony-forming assays showed that the absolute number of erythroid, myeloid, and mixed colonies was comparable to that of normal subjects. FISH analysis of selected colonies revealed that only a single signal for the RB1 gene was detected in five of five granulocyte macrophage-colony-forming units (CFUs), four of five erythroid burst-forming units, and two of four mixed CFUs (total 11/14: 78.6%). Thus, the majority of hematopoietic progenitor cells lacked one allele of the RB1 gene, suggesting that in this particular case the RB1 gene played an important role in abnormal hematopoiesis.
mesh_terms: D000368:Aged; D000753:Anemia, Refractory / Q000235:genetics*; D001854:Bone Marrow Cells / Q000166:cytology; D002882:Chromosomes, Human, Pair 13; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D016160:Retinoblastoma Protein / Q000235:genetics*; D017384:Sequence Deletion
chemical_list: D016160:Retinoblastoma Protein