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Chromosome 17 abnormalities and mutation of the TP53 gene: correlation between cytogenetics, flow cytometry and molecular analysis in three cases of chronic myeloid leukemia Genet. Mol. Biol.
Otero,Luize; Cavalcanti Júnior,Geraldo Barroso; Klumb,Claudete Esteves; Scheiner,Marcos Antonio Mauricio; Magluta,Eliane Pereira Simões; Fernandez,Teresa de Souza; Silva,Maria Luiza Macedo; Pires,Virgínia; Andrade,Gabriela Vasconcelos; Maia,Raquel Ciuvalschi; Tabak,Daniel.
chronic myeloid leukemia (CML) have been described. This chromosomal region contains the tumor suppressor gene TP53 that may be an important factor in the evolution of this disease. In this study, we used flow cytometry and western blotting to assess p53 protein expression and single stranded conformational polymorphism to examine TP53 gene alterations in three patients with CML who showed alterations in 17p. Only the case with del(17)(p11) had p53 expression positive by flow cytometry and an abnormal migration pattern by SSCP analysis. The importance of the correlation between the results obtained with these techniques, as well as the clinical course of the patients, are discussed.
Tipo: Info:eu-repo/semantics/article Palavras-chave: Chronic myeloid leukemia; Chromosome 17; TP53 gene; P53 protein.
Ano: 2005 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572005000100007
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DNA methylation patterns of candidate genes regulated by thymine DNA glycosylase in patients with TP53 germline mutations BJMBR
Fortes,F.P.; Kuasne,H.; Marchi,F.A.; Miranda,P.M.; Rogatto,S.R.; Achatz,M.I..
Li-Fraumeni syndrome (LFS) is a rare, autosomal dominant, hereditary cancer predisposition disorder. In Brazil, the p.R337H TP53 founder mutation causes the variant form of LFS, Li-Fraumeni-like syndrome. The occurrence of cancer and age of disease onset are known to vary, even in patients carrying the same mutation, and several mechanisms such as genetic and epigenetic alterations may be involved in this variability. However, the extent of involvement of such events has not been clarified. It is well established that p53 regulates several pathways, including the thymine DNA glycosylase (TDG) pathway, which regulates the DNA methylation of several genes. This study aimed to identify the DNA methylation pattern of genes potentially related to the TDG...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Li-Fraumeni syndrome; TP53 gene; TDG; Methylation.
Ano: 2015 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2015000700610
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