Mutation analysis of NANOS3 in Brazilian women with primary ovarian failure
Autor(a) principal: | |
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Data de Publicação: | 2016 |
Outros Autores: | , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Clinics |
Texto Completo: | https://www.revistas.usp.br/clinics/article/view/125371 |
Resumo: | OBJECTIVES: Primary ovarian failure is a rare disorder, and approximately 90% of cases are of unknown etiology. The aim of this study was to search for mutations in NANOS3, a gene that was recently related to the etiology of primary ovarian failure, in a group of Brazilian women. METHODS: We screened for NANOS3 DNA variants in 30 consecutive women who were previously diagnosed with primary ovarian failure, of unknown etiology and compared the results with those from 185 women with normal fertility. The NANOS3 gene was amplified by polymerase chain reaction using pairs of specific primers and then sequenced. The resulting sequences were compared with control sequences available in the National Center for Biotechnology and Information database. RESULTS: No mutations in NANOS3 were found in primary ovarian failure patients, but four previously described polymorphisms were identified at a similar frequency in the control and primary ovarian failure groups. CONCLUSIONS: Mutations in NANOS3 were not associated with primary ovarian failure in the present cohort. |
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Clinics |
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Mutation analysis of NANOS3 in Brazilian women with primary ovarian failure OBJECTIVES: Primary ovarian failure is a rare disorder, and approximately 90% of cases are of unknown etiology. The aim of this study was to search for mutations in NANOS3, a gene that was recently related to the etiology of primary ovarian failure, in a group of Brazilian women. METHODS: We screened for NANOS3 DNA variants in 30 consecutive women who were previously diagnosed with primary ovarian failure, of unknown etiology and compared the results with those from 185 women with normal fertility. The NANOS3 gene was amplified by polymerase chain reaction using pairs of specific primers and then sequenced. The resulting sequences were compared with control sequences available in the National Center for Biotechnology and Information database. RESULTS: No mutations in NANOS3 were found in primary ovarian failure patients, but four previously described polymorphisms were identified at a similar frequency in the control and primary ovarian failure groups. CONCLUSIONS: Mutations in NANOS3 were not associated with primary ovarian failure in the present cohort. Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo2016-12-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://www.revistas.usp.br/clinics/article/view/12537110.6061/clinics/2016(12)03Clinics; Vol. 71 No. 12 (2016); 695-698Clinics; v. 71 n. 12 (2016); 695-698Clinics; Vol. 71 Núm. 12 (2016); 695-6981980-53221807-5932reponame:Clinicsinstname:Universidade de São Paulo (USP)instacron:USPenghttps://www.revistas.usp.br/clinics/article/view/125371/122388Copyright (c) 2017 Clinicsinfo:eu-repo/semantics/openAccessSousa, Braian Lucas A.Nishi, Mirian YumieSantos, Mariza GerduloBrito, Vinicius NahimeDomenice, SorahiaMendonca, Berenice B.2017-01-06T12:36:02Zoai:revistas.usp.br:article/125371Revistahttps://www.revistas.usp.br/clinicsPUBhttps://www.revistas.usp.br/clinics/oai||clinics@hc.fm.usp.br1980-53221807-5932opendoar:2017-01-06T12:36:02Clinics - Universidade de São Paulo (USP)false |
dc.title.none.fl_str_mv |
Mutation analysis of NANOS3 in Brazilian women with primary ovarian failure |
title |
Mutation analysis of NANOS3 in Brazilian women with primary ovarian failure |
spellingShingle |
Mutation analysis of NANOS3 in Brazilian women with primary ovarian failure Sousa, Braian Lucas A. |
title_short |
Mutation analysis of NANOS3 in Brazilian women with primary ovarian failure |
title_full |
Mutation analysis of NANOS3 in Brazilian women with primary ovarian failure |
title_fullStr |
Mutation analysis of NANOS3 in Brazilian women with primary ovarian failure |
title_full_unstemmed |
Mutation analysis of NANOS3 in Brazilian women with primary ovarian failure |
title_sort |
Mutation analysis of NANOS3 in Brazilian women with primary ovarian failure |
author |
Sousa, Braian Lucas A. |
author_facet |
Sousa, Braian Lucas A. Nishi, Mirian Yumie Santos, Mariza Gerdulo Brito, Vinicius Nahime Domenice, Sorahia Mendonca, Berenice B. |
author_role |
author |
author2 |
Nishi, Mirian Yumie Santos, Mariza Gerdulo Brito, Vinicius Nahime Domenice, Sorahia Mendonca, Berenice B. |
author2_role |
author author author author author |
dc.contributor.author.fl_str_mv |
Sousa, Braian Lucas A. Nishi, Mirian Yumie Santos, Mariza Gerdulo Brito, Vinicius Nahime Domenice, Sorahia Mendonca, Berenice B. |
description |
OBJECTIVES: Primary ovarian failure is a rare disorder, and approximately 90% of cases are of unknown etiology. The aim of this study was to search for mutations in NANOS3, a gene that was recently related to the etiology of primary ovarian failure, in a group of Brazilian women. METHODS: We screened for NANOS3 DNA variants in 30 consecutive women who were previously diagnosed with primary ovarian failure, of unknown etiology and compared the results with those from 185 women with normal fertility. The NANOS3 gene was amplified by polymerase chain reaction using pairs of specific primers and then sequenced. The resulting sequences were compared with control sequences available in the National Center for Biotechnology and Information database. RESULTS: No mutations in NANOS3 were found in primary ovarian failure patients, but four previously described polymorphisms were identified at a similar frequency in the control and primary ovarian failure groups. CONCLUSIONS: Mutations in NANOS3 were not associated with primary ovarian failure in the present cohort. |
publishDate |
2016 |
dc.date.none.fl_str_mv |
2016-12-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
https://www.revistas.usp.br/clinics/article/view/125371 10.6061/clinics/2016(12)03 |
url |
https://www.revistas.usp.br/clinics/article/view/125371 |
identifier_str_mv |
10.6061/clinics/2016(12)03 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
https://www.revistas.usp.br/clinics/article/view/125371/122388 |
dc.rights.driver.fl_str_mv |
Copyright (c) 2017 Clinics info:eu-repo/semantics/openAccess |
rights_invalid_str_mv |
Copyright (c) 2017 Clinics |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo |
publisher.none.fl_str_mv |
Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo |
dc.source.none.fl_str_mv |
Clinics; Vol. 71 No. 12 (2016); 695-698 Clinics; v. 71 n. 12 (2016); 695-698 Clinics; Vol. 71 Núm. 12 (2016); 695-698 1980-5322 1807-5932 reponame:Clinics instname:Universidade de São Paulo (USP) instacron:USP |
instname_str |
Universidade de São Paulo (USP) |
instacron_str |
USP |
institution |
USP |
reponame_str |
Clinics |
collection |
Clinics |
repository.name.fl_str_mv |
Clinics - Universidade de São Paulo (USP) |
repository.mail.fl_str_mv |
||clinics@hc.fm.usp.br |
_version_ |
1800222762729472000 |