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Rarity of DNA sequence alterations in the promoter region of the human androgen receptor gene BJMBR
Cabral,D.F.; Santos,A.; Ribeiro,M.L.; Mesquita,J.C.; Carvalho-Salles,A.B.; Hackel,C..
The human androgen receptor (AR) gene promoter lies in a GC-rich region containing two principal sites of transcription initiation and a putative Sp1 protein-binding site, without typical "TATA" and "CAAT" boxes. It has been suggested that mutations within the 5'untranslated region (5'UTR) may contribute to the development of prostate cancer by changing the rates of gene transcription and/or translation. In order to investigate this question, the aim of the present study was to search for the presence of mutations or polymorphisms at the AR-5'UTR in 92 prostate cancer patients, where histological diagnosis of adenocarcinoma was established in specimens obtained from transurethral resection or after prostatectomy. The AR-5'UTR was amplified by PCR from...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Human androgen receptor gene; Promoter region; Prostate cancer; 5'Untranslated region; DNA sequence alterations.
Ano: 2004 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2004001200004
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Mutations of androgen receptor gene in Brazilian patients with male pseudohermaphroditism BJMBR
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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