New mutations, hotspots, and founder effects in Brazilian patients with steroid 5α-reductase deficiency type 2

Detalhes bibliográficos
Autor(a) principal: Silva, D. N.
Data de Publicação: 2005
Outros Autores: 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.
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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spelling 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
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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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dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
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