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 |
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Authors: | Nagamura Fumitaka Takabe Tomosato Takahashi Satoshi Ohno Nobuhiro Uchimaru Kaoru Ogami Kazuo Iseki Tohru Tojo Arinobu Asano Shigetaka |
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Institution: | Department of Hematology and Oncology, Institute of Medical Science, University of Tokyo, 4-6-1 Shirokanedai, Minato-ku, 108-8639 Tokyo, Japan. nagamura@ims.u-tokyo.ac.jp |
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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. |
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