From rumors to genetic isolates
Autor(a) principal: | |
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Data de Publicação: | 2014 |
Outros Autores: | |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UFRGS |
Texto Completo: | http://hdl.handle.net/10183/128988 |
Resumo: | Here we propose a registration process for population genetic isolates, usually geographic clusters of genetic disorders, based on the systematic search of rumors, defined as any type of account regardless of its reliability. Systematically ascertained rumors are recorded, and validated through a progressive process of pre-established steps. This paper outlines the conceptual basis for this approach and presents the preliminary results from a rumor-based nationwide registry of genetically isolated populations, named CENISO (Censo Nacional de Isolados), operating in Brazil since 2009. During the first four years of its existence (2009-2013), a total of 191 Rumors were registered and validated, resulting in a prevalence rate of one per million inhabitants of Brazil. When the five statutory geographic regions of Brazil were considered, more Rumors were registered for the Northeast (2.11; 1.74-2.54 per 106) than for the remaining four regions, North, Center-West, Southeast, and South, which did not differ among themselves. About half (86/191) of the recorded rumors were proven to be geographic clusters; of these disorders, 58 were autosomal recessive, 17 autosomal dominant, 5 X-linked, 3 multifactorial, and one environmental (thalidomide embryopathy). |
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Castilla, Eduardo EnriqueFaccini, Lavinia Schuler2015-11-07T02:36:42Z20141415-4757http://hdl.handle.net/10183/128988000917802Here we propose a registration process for population genetic isolates, usually geographic clusters of genetic disorders, based on the systematic search of rumors, defined as any type of account regardless of its reliability. Systematically ascertained rumors are recorded, and validated through a progressive process of pre-established steps. This paper outlines the conceptual basis for this approach and presents the preliminary results from a rumor-based nationwide registry of genetically isolated populations, named CENISO (Censo Nacional de Isolados), operating in Brazil since 2009. During the first four years of its existence (2009-2013), a total of 191 Rumors were registered and validated, resulting in a prevalence rate of one per million inhabitants of Brazil. When the five statutory geographic regions of Brazil were considered, more Rumors were registered for the Northeast (2.11; 1.74-2.54 per 106) than for the remaining four regions, North, Center-West, Southeast, and South, which did not differ among themselves. About half (86/191) of the recorded rumors were proven to be geographic clusters; of these disorders, 58 were autosomal recessive, 17 autosomal dominant, 5 X-linked, 3 multifactorial, and one environmental (thalidomide embryopathy).application/pdfengGenetics and molecular biology. Ribeirão Preto, SP. Vol. 37, n. 1 supl. (Apr. 2014), p. 186-193Doenças genéticasPopulaçãoRumorsDisease clusteringGenetic diseasesPopulation registersBrazilFrom rumors to genetic isolatesinfo:eu-repo/semantics/articleinfo:eu-repo/semantics/otherinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UFRGSinstname:Universidade Federal do Rio Grande do Sul (UFRGS)instacron:UFRGSORIGINAL000917802.pdf000917802.pdfTexto completo (inglês)application/pdf616484http://www.lume.ufrgs.br/bitstream/10183/128988/1/000917802.pdfa01df7d45b94fa75cc8d4debefaf1490MD51TEXT000917802.pdf.txt000917802.pdf.txtExtracted Texttext/plain34588http://www.lume.ufrgs.br/bitstream/10183/128988/2/000917802.pdf.txt2d98c48210475baa3eccd5fc3ac79b75MD52THUMBNAIL000917802.pdf.jpg000917802.pdf.jpgGenerated Thumbnailimage/jpeg1842http://www.lume.ufrgs.br/bitstream/10183/128988/3/000917802.pdf.jpgd19ac50820ff6086be30c6637e1f8a88MD5310183/1289882021-09-18 04:38:02.94865oai:www.lume.ufrgs.br:10183/128988Repositório de PublicaçõesPUBhttps://lume.ufrgs.br/oai/requestopendoar:2021-09-18T07:38:02Repositório Institucional da UFRGS - Universidade Federal do Rio Grande do Sul (UFRGS)false |
dc.title.pt_BR.fl_str_mv |
From rumors to genetic isolates |
title |
From rumors to genetic isolates |
spellingShingle |
From rumors to genetic isolates Castilla, Eduardo Enrique Doenças genéticas População Rumors Disease clustering Genetic diseases Population registers Brazil |
title_short |
From rumors to genetic isolates |
title_full |
From rumors to genetic isolates |
title_fullStr |
From rumors to genetic isolates |
title_full_unstemmed |
From rumors to genetic isolates |
title_sort |
From rumors to genetic isolates |
author |
Castilla, Eduardo Enrique |
author_facet |
Castilla, Eduardo Enrique Faccini, Lavinia Schuler |
author_role |
author |
author2 |
Faccini, Lavinia Schuler |
author2_role |
author |
dc.contributor.author.fl_str_mv |
Castilla, Eduardo Enrique Faccini, Lavinia Schuler |
dc.subject.por.fl_str_mv |
Doenças genéticas População |
topic |
Doenças genéticas População Rumors Disease clustering Genetic diseases Population registers Brazil |
dc.subject.eng.fl_str_mv |
Rumors Disease clustering Genetic diseases Population registers Brazil |
description |
Here we propose a registration process for population genetic isolates, usually geographic clusters of genetic disorders, based on the systematic search of rumors, defined as any type of account regardless of its reliability. Systematically ascertained rumors are recorded, and validated through a progressive process of pre-established steps. This paper outlines the conceptual basis for this approach and presents the preliminary results from a rumor-based nationwide registry of genetically isolated populations, named CENISO (Censo Nacional de Isolados), operating in Brazil since 2009. During the first four years of its existence (2009-2013), a total of 191 Rumors were registered and validated, resulting in a prevalence rate of one per million inhabitants of Brazil. When the five statutory geographic regions of Brazil were considered, more Rumors were registered for the Northeast (2.11; 1.74-2.54 per 106) than for the remaining four regions, North, Center-West, Southeast, and South, which did not differ among themselves. About half (86/191) of the recorded rumors were proven to be geographic clusters; of these disorders, 58 were autosomal recessive, 17 autosomal dominant, 5 X-linked, 3 multifactorial, and one environmental (thalidomide embryopathy). |
publishDate |
2014 |
dc.date.issued.fl_str_mv |
2014 |
dc.date.accessioned.fl_str_mv |
2015-11-07T02:36:42Z |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/other |
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info:eu-repo/semantics/publishedVersion |
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article |
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publishedVersion |
dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/10183/128988 |
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1415-4757 |
dc.identifier.nrb.pt_BR.fl_str_mv |
000917802 |
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http://hdl.handle.net/10183/128988 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.ispartof.pt_BR.fl_str_mv |
Genetics and molecular biology. Ribeirão Preto, SP. Vol. 37, n. 1 supl. (Apr. 2014), p. 186-193 |
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openAccess |
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