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dc.contributor.CRUESPUniversidade Estadual de Campinaspt_BR
dc.typeArtigo de periódicopt_BR
dc.titleMolecular analysis of the retinoblastoma (RB1) gene in acute myeloid leukemia patientspt_BR
dc.contributor.authorde Melo, MBpt_BR
dc.contributor.authorCosta, FFpt_BR
dc.contributor.authorSaad, STOpt_BR
dc.contributor.authorLorand-Metze, Ipt_BR
dc.contributor.authorBordin, Spt_BR
dc.contributor.authorAhmad, NNpt_BR
unicamp.authorWills Eye Hosp & Res Inst, Div Res, Philadelphia, PA 19107 USA UNICAMP, Sch Med Sci, Hemoctr, Dept Clin Med, Campinas, SP, Brazilpt_BR
dc.subjectpoint mutationspt_BR
dc.subjectRB1 genept_BR
dc.subjecttumor suppressor genept_BR
dc.subject.wosAcute Myelogenous Leukemiapt_BR
dc.subject.wosSensitive Gel-electrophoresispt_BR
dc.subject.wosSusceptibility Genept_BR
dc.subject.wosProtein Expressionpt_BR
dc.subject.wosAltered Expressionpt_BR
dc.subject.wosEnzymatic Amplificationpt_BR
dc.subject.wosCooperative Grouppt_BR
dc.subject.wosPoint Mutationspt_BR
dc.description.abstractThe pathogenesis of acute leukemia is still poorly understood. In the past few years several groups have reported deletion of the RB1 gene or altered pRB expression in certain hematologic malignancies, suggesting a possible role of RB1 gene inactivation in the process of leukemogenesis. Most studies regarding structural abnormalities of the RB1 gene indicate that gross deletions or rearrangements are present in a small percentage of patients with acute myeloid leukemia (AML), as is the case with retinoblastoma, where the majority of RB1 gene abnormalities are attributed to point mutations. To investigate if such point mutations in the RB1 gene may have a role in leukemogenesis in AML, we screened the RB1 gene of 36 AML patients using conformation-sensitive gel electrophoresis (CSGE). No point mutations were found in the 27 exons, their flanking intron regions or in the promoter region in any of the 36 patients. Thus, according to our findings, the susceptibility in these patients for developing AML does not appear to be related to point mutations in the RB1 gene. While screening for point mutations, we identified a number of new and previously noted neutral sequence variations indicating the efficiency and sensitivity of CSGE in identifying small changes in the RB1 gene. (C) 1998 Elsevier Science Ltd. All rights
dc.relation.ispartofLeukemia Researchpt_BR
dc.relation.ispartofabbreviationLeuk. Res.pt_BR
dc.publisherPergamon-elsevier Science Ltdpt_BR
dc.identifier.citationLeukemia Research. Pergamon-elsevier Science Ltd, v. 22, n. 9, n. 787, n. 792, 1998.pt_BR
dc.sourceWeb of Sciencept_BR
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dc.description.provenanceMade available in DSpace on 2015-11-26T16:39:22Z (GMT). No. of bitstreams: 2 WOS000075292300003.pdf: 126280 bytes, checksum: b381792e75c95b0c704d257f4c106a7e (MD5) WOS000075292300003.pdf.txt: 27025 bytes, checksum: c1a01b2eccc5b5632b15d18cb04f2c09 (MD5) Previous issue date: 1998en
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