Genetic studies in a cluster of Mucopolysaccharidosis Type VI patients in Northeast Brazil

Detalhes bibliográficos
Autor(a) principal: Motta, Fabiana Moura Costa
Data de Publicação: 2011
Outros Autores: Acosta, Angelina Xavier, Abe Sandes, Kiyoko, Bender, Fernanda, Schwartz, Ida Vanessa Doederlein, Giugliani, Roberto, Segal, Sandra Leistner
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da UFBA
Texto Completo: http://repositorio.ufba.br/ri/handle/ri/16676
Resumo: Texto completo: acesso restrito. p. 603–607
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spelling Motta, Fabiana Moura CostaAcosta, Angelina XavierAbe Sandes, KiyokoBender, FernandaSchwartz, Ida Vanessa DoederleinGiugliani, RobertoSegal, Sandra LeistnerMotta, Fabiana Moura CostaAcosta, Angelina XavierAbe Sandes, KiyokoBender, FernandaSchwartz, Ida Vanessa DoederleinGiugliani, RobertoSegal, Sandra Leistner2014-11-28T15:51:33Z20111096-7192http://repositorio.ufba.br/ri/handle/ri/16676v. 104, n. 4Texto completo: acesso restrito. p. 603–607Mucopolysaccharidosis type VI (MPS VI, Maroteaux–Lamy syndrome) is a lysosomal storage disease caused by deficiency of arylsulphatase B. The incidence of MPS VI is very low, usually less than 1 case for every 1,000,000 newborns. In Northeast Brazil we identified in the county of Monte Santo (52,360 inhabitants) thirteen patients with MPS VI. The aim of this work was to identify the mutation(s) present in these patients and analyze intragenic SNPs to define possible haplotypes. The 13 MPS VI patients were found to be homozygous for the p.H178L mutation. All patients have the same haplotype for the intragenic SNPs. Based on current data, the prevalence of MPS VI in this region is estimated as 1:5,000 newborns. These results, together with pedigree analysis, strongly suggest a founder effect accounting for the high frequency of p.H178L mutation in this area. This reinforces the need of a comprehensive community genetics program for this area.Submitted by Edileide Reis (leyde-landy@hotmail.com) on 2014-02-18T14:15:01Z No. of bitstreams: 1 Angelina Xavier Acosta.pdf: 573475 bytes, checksum: ff2398be5885fcbb0b5cb9b8d18b74be (MD5)Approved for entry into archive by Flávia Ferreira (flaviaccf@yahoo.com.br) on 2014-11-28T15:51:33Z (GMT) No. of bitstreams: 1 Angelina Xavier Acosta.pdf: 573475 bytes, checksum: ff2398be5885fcbb0b5cb9b8d18b74be (MD5)Made available in DSpace on 2014-11-28T15:51:33Z (GMT). No. of bitstreams: 1 Angelina Xavier Acosta.pdf: 573475 bytes, checksum: ff2398be5885fcbb0b5cb9b8d18b74be (MD5) Previous issue date: 2011http://dx.doi.org/10.1016/j.ymgme.2011.09.017reponame:Repositório Institucional da UFBAinstname:Universidade Federal da Bahia (UFBA)instacron:UFBAMucopolysaccharidosis VIMaroteaux–Lamy syndromeArylsulfatase BFounder effectPopulation Medical GeneticsGenetic studies in a cluster of Mucopolysaccharidosis Type VI patients in Northeast BrazilMolecular Genetics and Metabolisminfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article10000-01-01info:eu-repo/semantics/openAccessengORIGINALAngelina Xavier Acosta.pdfAngelina Xavier Acosta.pdfapplication/pdf573475https://repositorio.ufba.br/bitstream/ri/16676/1/Angelina%20Xavier%20Acosta.pdfff2398be5885fcbb0b5cb9b8d18b74beMD51LICENSElicense.txtlicense.txttext/plain1345https://repositorio.ufba.br/bitstream/ri/16676/2/license.txtff6eaa8b858ea317fded99f125f5fcd0MD52TEXTAngelina Xavier Acosta.pdf.txtAngelina Xavier Acosta.pdf.txtExtracted texttext/plain19981https://repositorio.ufba.br/bitstream/ri/16676/3/Angelina%20Xavier%20Acosta.pdf.txta8ebf018ed2eea0b2d0f97bbc8ec0006MD53ri/166762022-07-05 14:02:54.51oai:repositorio.ufba.br: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Repositório InstitucionalPUBhttp://192.188.11.11:8080/oai/requestopendoar:19322022-07-05T17:02:54Repositório Institucional da UFBA - Universidade Federal da Bahia (UFBA)false
dc.title.pt_BR.fl_str_mv Genetic studies in a cluster of Mucopolysaccharidosis Type VI patients in Northeast Brazil
dc.title.alternative.pt_BR.fl_str_mv Molecular Genetics and Metabolism
title Genetic studies in a cluster of Mucopolysaccharidosis Type VI patients in Northeast Brazil
spellingShingle Genetic studies in a cluster of Mucopolysaccharidosis Type VI patients in Northeast Brazil
Motta, Fabiana Moura Costa
Mucopolysaccharidosis VI
Maroteaux–Lamy syndrome
Arylsulfatase B
Founder effect
Population Medical Genetics
title_short Genetic studies in a cluster of Mucopolysaccharidosis Type VI patients in Northeast Brazil
title_full Genetic studies in a cluster of Mucopolysaccharidosis Type VI patients in Northeast Brazil
title_fullStr Genetic studies in a cluster of Mucopolysaccharidosis Type VI patients in Northeast Brazil
title_full_unstemmed Genetic studies in a cluster of Mucopolysaccharidosis Type VI patients in Northeast Brazil
title_sort Genetic studies in a cluster of Mucopolysaccharidosis Type VI patients in Northeast Brazil
author Motta, Fabiana Moura Costa
author_facet Motta, Fabiana Moura Costa
Acosta, Angelina Xavier
Abe Sandes, Kiyoko
Bender, Fernanda
Schwartz, Ida Vanessa Doederlein
Giugliani, Roberto
Segal, Sandra Leistner
author_role author
author2 Acosta, Angelina Xavier
Abe Sandes, Kiyoko
Bender, Fernanda
Schwartz, Ida Vanessa Doederlein
Giugliani, Roberto
Segal, Sandra Leistner
author2_role author
author
author
author
author
author
dc.contributor.author.fl_str_mv Motta, Fabiana Moura Costa
Acosta, Angelina Xavier
Abe Sandes, Kiyoko
Bender, Fernanda
Schwartz, Ida Vanessa Doederlein
Giugliani, Roberto
Segal, Sandra Leistner
Motta, Fabiana Moura Costa
Acosta, Angelina Xavier
Abe Sandes, Kiyoko
Bender, Fernanda
Schwartz, Ida Vanessa Doederlein
Giugliani, Roberto
Segal, Sandra Leistner
dc.subject.por.fl_str_mv Mucopolysaccharidosis VI
Maroteaux–Lamy syndrome
Arylsulfatase B
Founder effect
Population Medical Genetics
topic Mucopolysaccharidosis VI
Maroteaux–Lamy syndrome
Arylsulfatase B
Founder effect
Population Medical Genetics
description Texto completo: acesso restrito. p. 603–607
publishDate 2011
dc.date.issued.fl_str_mv 2011
dc.date.accessioned.fl_str_mv 2014-11-28T15:51:33Z
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/16676
dc.identifier.issn.none.fl_str_mv 1096-7192
dc.identifier.number.pt_BR.fl_str_mv v. 104, n. 4
identifier_str_mv 1096-7192
v. 104, n. 4
url http://repositorio.ufba.br/ri/handle/ri/16676
dc.language.iso.fl_str_mv eng
language eng
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.source.pt_BR.fl_str_mv http://dx.doi.org/10.1016/j.ymgme.2011.09.017
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