Fast and robust protocol for prenatal diagnosis of mucopolysaccharidosis type II
Autor(a) principal: | |
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Data de Publicação: | 2014 |
Outros Autores: | , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Clinical and Biomedical Research |
Texto Completo: | https://seer.ufrgs.br/index.php/hcpa/article/view/49872 |
Resumo: | Introduction: Mucopolysaccharidosis type II (MPSII) is an X-linked lysosomal disorder caused by deficiency of iduronate-2-sulfatase (IDS). In this study, we proposed a new protocol for prenatal diagnosis, using DNA obtained from amniotic fluid cells that did not attach to the bottom of the culture flask after the first medium change.Methods: Four pregnant MPS II carriers were referred to the Medical Genetics Service of Hospital de Clinicas dePorto Alegre for a prenatal diagnosis and identification of the disease, which were performed by polymerase chain reaction (PCR) amplification, restriction fragment length polymorphism, and sequencing according to the mutation previously found in the family.Results: The analysis indicated the absence of mutation in three fetal materials and the presence of mutation in one case. Concomitantly, cytogenetic and biochemical analyses were performed after 12 days of cell culture, and only one case showed absence of enzyme activity, confirming the molecular analysis.Conclusions: This diagnostic protocol designed to provide more robust results and safer genetic counseling suggests that DNA obtained from floating amniotic fluid cells can be used as a source of fetal material to allow a faster alternative for prenatal care through molecular analysis. Determination of IDS gene mutation in fetal amniotic fluid cells together with IDS enzyme activity testing is a rapid, sensitive and accurate method for prenatal diagnosis of MPS II for high-risk pregnant women. |
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Clinical and Biomedical Research |
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Fast and robust protocol for prenatal diagnosis of mucopolysaccharidosis type IIPrenatal diagnosismolecular analysisgenetic counsellingIntroduction: Mucopolysaccharidosis type II (MPSII) is an X-linked lysosomal disorder caused by deficiency of iduronate-2-sulfatase (IDS). In this study, we proposed a new protocol for prenatal diagnosis, using DNA obtained from amniotic fluid cells that did not attach to the bottom of the culture flask after the first medium change.Methods: Four pregnant MPS II carriers were referred to the Medical Genetics Service of Hospital de Clinicas dePorto Alegre for a prenatal diagnosis and identification of the disease, which were performed by polymerase chain reaction (PCR) amplification, restriction fragment length polymorphism, and sequencing according to the mutation previously found in the family.Results: The analysis indicated the absence of mutation in three fetal materials and the presence of mutation in one case. Concomitantly, cytogenetic and biochemical analyses were performed after 12 days of cell culture, and only one case showed absence of enzyme activity, confirming the molecular analysis.Conclusions: This diagnostic protocol designed to provide more robust results and safer genetic counseling suggests that DNA obtained from floating amniotic fluid cells can be used as a source of fetal material to allow a faster alternative for prenatal care through molecular analysis. Determination of IDS gene mutation in fetal amniotic fluid cells together with IDS enzyme activity testing is a rapid, sensitive and accurate method for prenatal diagnosis of MPS II for high-risk pregnant women. HCPA/FAMED/UFRGS2014-11-18info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionPeer-reviewed ArticleAvaliado por Paresapplication/pdfhttps://seer.ufrgs.br/index.php/hcpa/article/view/49872Clinical & Biomedical Research; Vol. 34 No. 4 (2014): Clinical and Biomedical ResearchClinical and Biomedical Research; v. 34 n. 4 (2014): Clinical and Biomedical Research2357-9730reponame:Clinical and Biomedical Researchinstname:Universidade Federal do Rio Grande do Sul (UFRGS)instacron:UFRGSenghttps://seer.ufrgs.br/index.php/hcpa/article/view/49872/33150Leistner-Segal, SandraBrusius-Facchin, Ana CarolinaGus, RejaneBurin, MairaSanseverino, Maria TeresaMagalhães, José AntônioGiugliani, Robertoinfo:eu-repo/semantics/openAccess2024-01-19T13:31:15Zoai:seer.ufrgs.br:article/49872Revistahttps://www.seer.ufrgs.br/index.php/hcpaPUBhttps://seer.ufrgs.br/index.php/hcpa/oai||cbr@hcpa.edu.br2357-97302357-9730opendoar:2024-01-19T13:31:15Clinical and Biomedical Research - Universidade Federal do Rio Grande do Sul (UFRGS)false |
dc.title.none.fl_str_mv |
Fast and robust protocol for prenatal diagnosis of mucopolysaccharidosis type II |
title |
Fast and robust protocol for prenatal diagnosis of mucopolysaccharidosis type II |
spellingShingle |
Fast and robust protocol for prenatal diagnosis of mucopolysaccharidosis type II Leistner-Segal, Sandra Prenatal diagnosis molecular analysis genetic counselling |
title_short |
Fast and robust protocol for prenatal diagnosis of mucopolysaccharidosis type II |
title_full |
Fast and robust protocol for prenatal diagnosis of mucopolysaccharidosis type II |
title_fullStr |
Fast and robust protocol for prenatal diagnosis of mucopolysaccharidosis type II |
title_full_unstemmed |
Fast and robust protocol for prenatal diagnosis of mucopolysaccharidosis type II |
title_sort |
Fast and robust protocol for prenatal diagnosis of mucopolysaccharidosis type II |
author |
Leistner-Segal, Sandra |
author_facet |
Leistner-Segal, Sandra Brusius-Facchin, Ana Carolina Gus, Rejane Burin, Maira Sanseverino, Maria Teresa Magalhães, José Antônio Giugliani, Roberto |
author_role |
author |
author2 |
Brusius-Facchin, Ana Carolina Gus, Rejane Burin, Maira Sanseverino, Maria Teresa Magalhães, José Antônio Giugliani, Roberto |
author2_role |
author author author author author author |
dc.contributor.author.fl_str_mv |
Leistner-Segal, Sandra Brusius-Facchin, Ana Carolina Gus, Rejane Burin, Maira Sanseverino, Maria Teresa Magalhães, José Antônio Giugliani, Roberto |
dc.subject.por.fl_str_mv |
Prenatal diagnosis molecular analysis genetic counselling |
topic |
Prenatal diagnosis molecular analysis genetic counselling |
description |
Introduction: Mucopolysaccharidosis type II (MPSII) is an X-linked lysosomal disorder caused by deficiency of iduronate-2-sulfatase (IDS). In this study, we proposed a new protocol for prenatal diagnosis, using DNA obtained from amniotic fluid cells that did not attach to the bottom of the culture flask after the first medium change.Methods: Four pregnant MPS II carriers were referred to the Medical Genetics Service of Hospital de Clinicas dePorto Alegre for a prenatal diagnosis and identification of the disease, which were performed by polymerase chain reaction (PCR) amplification, restriction fragment length polymorphism, and sequencing according to the mutation previously found in the family.Results: The analysis indicated the absence of mutation in three fetal materials and the presence of mutation in one case. Concomitantly, cytogenetic and biochemical analyses were performed after 12 days of cell culture, and only one case showed absence of enzyme activity, confirming the molecular analysis.Conclusions: This diagnostic protocol designed to provide more robust results and safer genetic counseling suggests that DNA obtained from floating amniotic fluid cells can be used as a source of fetal material to allow a faster alternative for prenatal care through molecular analysis. Determination of IDS gene mutation in fetal amniotic fluid cells together with IDS enzyme activity testing is a rapid, sensitive and accurate method for prenatal diagnosis of MPS II for high-risk pregnant women. |
publishDate |
2014 |
dc.date.none.fl_str_mv |
2014-11-18 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion Peer-reviewed Article Avaliado por Pares |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
https://seer.ufrgs.br/index.php/hcpa/article/view/49872 |
url |
https://seer.ufrgs.br/index.php/hcpa/article/view/49872 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
https://seer.ufrgs.br/index.php/hcpa/article/view/49872/33150 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
HCPA/FAMED/UFRGS |
publisher.none.fl_str_mv |
HCPA/FAMED/UFRGS |
dc.source.none.fl_str_mv |
Clinical & Biomedical Research; Vol. 34 No. 4 (2014): Clinical and Biomedical Research Clinical and Biomedical Research; v. 34 n. 4 (2014): Clinical and Biomedical Research 2357-9730 reponame:Clinical and Biomedical Research instname:Universidade Federal do Rio Grande do Sul (UFRGS) instacron:UFRGS |
instname_str |
Universidade Federal do Rio Grande do Sul (UFRGS) |
instacron_str |
UFRGS |
institution |
UFRGS |
reponame_str |
Clinical and Biomedical Research |
collection |
Clinical and Biomedical Research |
repository.name.fl_str_mv |
Clinical and Biomedical Research - Universidade Federal do Rio Grande do Sul (UFRGS) |
repository.mail.fl_str_mv |
||cbr@hcpa.edu.br |
_version_ |
1799767053670809600 |