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| Paz-y-Miño,César; López-Cortés,Andrés; Muñoz,María José; Castro,Bernardo; Cabrera,Alejandro; Sánchez,María Eugenia. |
| The hRAD54 gene is a key member of the RAD52 epistasis group involved in repair of double-strand breaks (DSB) by homologous recombination (HR). Thus, alterations of the normal function of these genes could generate genetic instability, shifting the normal process of the cell cycle, leading the cells to develop into cancer. In this work we analyzed exon 18 of the hRAD54 gene, which has been previously reported by our group to carry a silent polymorphism, 2290 C/T (Ala730Ala), associated to meningiomas. We performed a PCR-SSCP method to detect the polymorphism in 239 samples including leukemia and normal control population. The results revealed that the 2290 C/T polymorphism has frequencies of 0.1 for the leukemia and 0.1 for the control group. These... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Cancer; Leukemia; CML; ALL; HRAD54; 2290 C/T polymorphism. |
| Ano: 2010 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000400009 |
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| Barbosa,Cynara Gomes; Souza,Claudio Lima; Moura Neto,José Pereira de; Arruda,Maria da Glória Bomfim; Barreto,José Henrique; Reis,Mitermayer Galvão; Goncalves,Marilda Souza. |
| Methylenetetrahydrofolate reductase (MTHFR: EC 1.5.1.20) polymorphisms are associated to acute lymphoid leukemia in different populations. We used the polymerase chain reaction and the restriction fragment length polymorphism method (PCR-RFLP) to investigate MTHFR C677T and A1298C polymorphism frequencies in 67 patients with chronic myeloid leukemia (CML), 27 with acute myeloid leukemia FAB subtype M3 (AML-M3) and 100 apparently healthy controls. The MTHFR mutant allele frequencies were as follows: CML = 17.2% for C677T, 21.6% for A1298C; AML-M3 = 22.2% for C677T, 24.1% for A1298C; and controls = 20.5% for C677T, 21% for A1298C. Taken together, our results provide evidence that MTHFR polymorphisms have no influence on the development of CML or AML-M3. |
| Tipo: Info:eu-repo/semantics/other |
Palavras-chave: AML; CML; MTHFR polymorphisms. |
| Ano: 2008 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000100005 |
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