New mutations, hotspots, and founder effects in Brazilian patients with steroid 5α-reductase deficiency type 2
Autor(a) principal: | |
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Data de Publicação: | 2005 |
Outros Autores: | , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UFBA |
Texto Completo: | http://repositorio.ufba.br/ri/handle/ri/13883 |
Resumo: | Texto completo: acesso restrito. p. 569-576 |
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Silva, D. N.Toralles, Maria Betânia PereiraHackel, C.Oliveira, L. E. C.Ferraz, L. F. C.Tonini, Maria Manuela de OliveiraStuchi-Perez, Eliana GabasGuerra-Junior, G.Silva, D. N.Toralles, Maria Betânia PereiraHackel, C.Oliveira, L. E. C.Ferraz, L. F. C.Tonini, Maria Manuela de OliveiraStuchi-Perez, Eliana GabasGuerra-Junior, G.2013-11-26T12:53:24Z20050946-2716http://repositorio.ufba.br/ri/handle/ri/13883v. 83, n. 7Texto completo: acesso restrito. p. 569-576Mutations of the steroid 5α-reductase type 2 (SRD5A2) gene in 46,XY subjects cause masculinization defects of varying degrees, due to reduced or impaired enzymatic activity. In this study, sequence abnormalities of the SRD5A2 gene were assessed by polymerase chain reaction with specific primers and automated sequencing analysis in DNA samples from 20 patients with suspected steroid 5α-reductase type 2 deficiency from 18 Brazilian families. Eleven subjects presented SRD5A2 homozygous single-base mutations (two first cousins and four unrelated patients with G183S, two with R246W, one with del642T, one with G196S, and one with 217_218insC plus the A49T variant in heterozygosis), whereas four were compound heterozygotes (one with Q126R/IVS3+1G>A, one with Q126R/del418T, and two brothers with Q126R/G158R). Three patients were heterozygous for A207D, G196S, and R266W substitutions. The V89L polymorphism was found in heterozygosis in one of them (with A207D) and in one case with an otherwise normal gene sequence. The A49T variant was also detected in heterozygosis in the second case without other sequencing abnormalities. Four patients harbor yet non-described SRD5A2 gene mutations: a single nucleotide deletion (del642T), a G158R amino acid substitution, a splice junction mutation (IVS3+1G>A), and the insertion of a cytosine (217_218insC) occurring at a CCCC motif. This is the first report of a single-nucleotide insertion in the coding sequence of the SRD5A2 gene. In addition to these new mutations, this investigation reveals the prevalence of G183S substitution among a subset of African–Brazilian patients and presents evidences of the recurrence of already known mutations.Submitted by Edileide Reis (leyde-landy@hotmail.com) on 2013-11-20T13:51:39Z No. of bitstreams: 1 D. N. Silva.pdf: 216700 bytes, checksum: 90d6efed1ef96d76c2012845f66c2d3b (MD5)Approved for entry into archive by Rodrigo Meirelles (rodrigomei@ufba.br) on 2013-11-26T12:53:24Z (GMT) No. of bitstreams: 1 D. N. Silva.pdf: 216700 bytes, checksum: 90d6efed1ef96d76c2012845f66c2d3b (MD5)Made available in DSpace on 2013-11-26T12:53:24Z (GMT). No. of bitstreams: 1 D. N. Silva.pdf: 216700 bytes, checksum: 90d6efed1ef96d76c2012845f66c2d3b (MD5) Previous issue date: 2005http://dx.doi.org/ 10.1007/s00109-005-0651-7reponame:Repositório Institucional da UFBAinstname:Universidade Federal da Bahia (UFBA)instacron:UFBANew mutations, hotspots, and founder effects in Brazilian patients with steroid 5α-reductase deficiency type 2Journal of Molecular Medicineinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article10000-01-01info:eu-repo/semantics/openAccessengORIGINALD. N. Silva.pdfD. N. Silva.pdfapplication/pdf216700https://repositorio.ufba.br/bitstream/ri/13883/1/D.%20N.%20Silva.pdf90d6efed1ef96d76c2012845f66c2d3bMD51LICENSElicense.txtlicense.txttext/plain1345https://repositorio.ufba.br/bitstream/ri/13883/2/license.txtff6eaa8b858ea317fded99f125f5fcd0MD52TEXTD. N. Silva.pdf.txtD. N. 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dc.title.pt_BR.fl_str_mv |
New mutations, hotspots, and founder effects in Brazilian patients with steroid 5α-reductase deficiency type 2 |
dc.title.alternative.pt_BR.fl_str_mv |
Journal of Molecular Medicine |
title |
New mutations, hotspots, and founder effects in Brazilian patients with steroid 5α-reductase deficiency type 2 |
spellingShingle |
New mutations, hotspots, and founder effects in Brazilian patients with steroid 5α-reductase deficiency type 2 Silva, D. N. |
title_short |
New mutations, hotspots, and founder effects in Brazilian patients with steroid 5α-reductase deficiency type 2 |
title_full |
New mutations, hotspots, and founder effects in Brazilian patients with steroid 5α-reductase deficiency type 2 |
title_fullStr |
New mutations, hotspots, and founder effects in Brazilian patients with steroid 5α-reductase deficiency type 2 |
title_full_unstemmed |
New mutations, hotspots, and founder effects in Brazilian patients with steroid 5α-reductase deficiency type 2 |
title_sort |
New mutations, hotspots, and founder effects in Brazilian patients with steroid 5α-reductase deficiency type 2 |
author |
Silva, D. N. |
author_facet |
Silva, D. N. Toralles, Maria Betânia Pereira Hackel, C. Oliveira, L. E. C. Ferraz, L. F. C. Tonini, Maria Manuela de Oliveira Stuchi-Perez, Eliana Gabas Guerra-Junior, G. |
author_role |
author |
author2 |
Toralles, Maria Betânia Pereira Hackel, C. Oliveira, L. E. C. Ferraz, L. F. C. Tonini, Maria Manuela de Oliveira Stuchi-Perez, Eliana Gabas Guerra-Junior, G. |
author2_role |
author author author author author author author |
dc.contributor.author.fl_str_mv |
Silva, D. N. Toralles, Maria Betânia Pereira Hackel, C. Oliveira, L. E. C. Ferraz, L. F. C. Tonini, Maria Manuela de Oliveira Stuchi-Perez, Eliana Gabas Guerra-Junior, G. Silva, D. N. Toralles, Maria Betânia Pereira Hackel, C. Oliveira, L. E. C. Ferraz, L. F. C. Tonini, Maria Manuela de Oliveira Stuchi-Perez, Eliana Gabas Guerra-Junior, G. |
description |
Texto completo: acesso restrito. p. 569-576 |
publishDate |
2005 |
dc.date.issued.fl_str_mv |
2005 |
dc.date.accessioned.fl_str_mv |
2013-11-26T12:53:24Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://repositorio.ufba.br/ri/handle/ri/13883 |
dc.identifier.issn.none.fl_str_mv |
0946-2716 |
dc.identifier.number.pt_BR.fl_str_mv |
v. 83, n. 7 |
identifier_str_mv |
0946-2716 v. 83, n. 7 |
url |
http://repositorio.ufba.br/ri/handle/ri/13883 |
dc.language.iso.fl_str_mv |
eng |
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eng |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
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openAccess |
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http://dx.doi.org/ 10.1007/s00109-005-0651-7 |
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reponame:Repositório Institucional da UFBA instname:Universidade Federal da Bahia (UFBA) instacron:UFBA |
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