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| Cabral,D.F.; Maciel-Guerra,A.T.; Hackel,C.. |
| We describe the identification of point mutations in the androgen receptor gene in five Brazilian patients with female assignment and behavior. The eight exons of the gene were amplified by the polymerase chain reaction (PCR) and analyzed for single-strand conformation polymorphism (SSCP) to detect the mutations. Direct sequencing of the mutant PCR products demonstrated single transitions in three of these cases: G<FONT FACE="Symbol">®</font>A in case 1, within exon C, changing codon 615 from Arg to His; G<FONT FACE="Symbol">®</font>A in case 2, within exon E, changing codon 752 from Arg to Gln, and C<FONT FACE="Symbol">®</font>T in case 3, within exon B, but without amino acid change. |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Androgen receptor gene; Gene mutations; Androgen insensitivity syndromes; Male pseudohermaphroditism. |
| Ano: 1998 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X1998000600008 |
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| Araújo,F.G. de; Novaes,F.C.; Santos,N.P.C. dos; Martins,V.C.; Souza,S.M. de; Santos,S.E.B. dos; Ribeiro-dos-Santos,A.K.C.. |
| Cystic fibrosis (CF) is the most common genetic disease among Caucasians and is rare among sub-Saharan Africans. The Brazilian population is not ethnically homogeneous but it is the result of three-way ethnic admixture of Europeans, Africans and Amerindians in varying proportions, depending on the region. In the present study, we investigated 33 patients who had been diagnosed and are currently under treatment for CF at the University Hospital João de Barros Barreto, Belém, Pará State. The molecular analysis for G542X, G551D and R553X mutations was performed by PCR followed by RFLP using BstNI, HincII and MboI, respectively, in polyacrylamide gel eletrophoresis and stained with AgNO3. ThedeltaF508 mutation (a deletion of 3 bp) was only analyzed by... |
| Tipo: Info:eu-repo/semantics/other |
Palavras-chave: Cystic fibrosis; Gene mutations; Amazon region; Belém; DeltaF508 gene; G551D gene. |
| Ano: 2005 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2005000100003 |
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| Santos,P.C.J.L.; Cançado,R.D.; Terada,C.T.; Rostelato,S.; Gonzales,I.; Hirata,R.D.C.; Hirata,M.H.; Chiattone,C.S.; Guerra-Shinohara,E.M.. |
| Mutations of the HFE and TFR2 genes have been associated with iron overload. HFE and TFR2 mutations were assessed in blood donors, and the relationship with iron status was evaluated. Subjects (N = 542) were recruited at the Hemocentro da Santa Casa de São Paulo, São Paulo, Brazil. Iron status was not influenced by HFE mutations in women and was independent of blood donation frequency. In contrast, men carrying the HFE 282CY genotype had lower total iron-binding capacity (TIBC) than HFE 282CC genotype carriers. Men who donated blood for the first time and were carriers of the HFE 282CY genotype had higher transferrin saturation values and lower TIBC concentrations than those with the homozygous wild genotype for the HFE C282Y mutation. Moreover, in this... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: HFE; TFR2; Gene mutations; Blood donors; Iron status. |
| Ano: 2010 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2010000100015 |
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