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	Provedor de dados BJMBR (2) Autor Bahia,M.O. (1) Burbano,R.R. (1) Casartelli,C. (1) Costa,F.F. (1) Jorge,S.B. (1) Lemos,J.A. (1) Medeiros,A.C. (1) Mello,A.A. (1) Melo,M.B. (1) Sonati,M.F. (1) Mais... Palavra-chave Mutation screening (2) Alpha-globin genes (1) Alpha-globin structural variants (1) Early breast cancer (1) Family history of breast cancer (1) Hemoglobinopathies (1) Nonradioactive SSCP (1) TP53 (1) Mais... Tipo do documento Info:eu-repo/semantics/other (2) Ano 2003 (1) 2000 (1) País Brazil (2) Idioma Inglês (2)		Ordenar por:  Relevância Autor Título Ano Registros recuperados: 2 Primeira ... 1 ... Última Screening for mutations in human alpha-globin genes by nonradioactive single-strand conformation polymorphism BJMBR Jorge,S.B.; Melo,M.B.; Costa,F.F.; Sonati,M.F.. Point mutations and small insertions or deletions in the human alpha-globin genes may produce alpha-chain structural variants and alpha-thalassemia. Mutations can be detected either by direct DNA sequencing or by screening methods, which select the mutated exon for sequencing. Although small (about 1 kb, 3 exons and 2 introns), the alpha-globin genes are duplicate (alpha2 and alpha1) and highy G-C rich, which makes them difficult to denature, reducing sequencing efficiency and causing frequent artifacts. We modified some conditions for PCR and electrophoresis in order to detect mutations in these genes employing nonradioactive single-strand conformation polymorphism (SSCP). Primers previously described by other authors for radioactive SSCP and phast-SSCP... Tipo: Info:eu-repo/semantics/other Palavras-chave: Alpha-globin genes; Nonradioactive SSCP; Alpha-globin structural variants; Hemoglobinopathies; Mutation screening. Ano: 2003 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2003001100004 Investigation of single-strand conformational polymorphism of the TP53 gene in women with a family history of breast cancer BJMBR Burbano,R.R.; Medeiros,A.C.; Mello,A.A.; Lemos,J.A.; Bahia,M.O.; Casartelli,C.. Breast cancer in families with germ line mutations in the TP53 gene has been described in the medical literature. Mutation screening for susceptibility genes should allow effective prophylactic and preventive measures. Using single-strand conformational polymorphism, we screened for mutations in exons 5, 6, 7 and 8 of gene TP53 in the peripheral blood of 8 young non-affected members (17 to 36 years old) of families with a history of breast cancer. Studies of this type on young patients (mean age, 25 years) are very rare in the literature. The identification of these mutations would contribute to genetic counseling of members of families with predisposition to breast cancer. The results obtained did not show any polymorphism indicating mutation. In our... Tipo: Info:eu-repo/semantics/other Palavras-chave: TP53; Family history of breast cancer; Mutation screening; Early breast cancer. Ano: 2000 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2000001100010 Registros recuperados: 2 Primeira ... 1 ... Última

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