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From rumors to genetic isolates

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 pr...

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Detalles Bibliográficos
Autores principales: Castilla, Eduardo E., Schuler-Faccini, Lavinia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Genética 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3983592/
https://www.ncbi.nlm.nih.gov/pubmed/24764753
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author Castilla, Eduardo E.
Schuler-Faccini, Lavinia
author_facet Castilla, Eduardo E.
Schuler-Faccini, Lavinia
author_sort Castilla, Eduardo E.
collection PubMed
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 10(6)) 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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spelling pubmed-39835922014-04-24 From rumors to genetic isolates Castilla, Eduardo E. Schuler-Faccini, Lavinia Genet Mol Biol Research Article 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 10(6)) 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). Sociedade Brasileira de Genética 2014-03 2013-03-20 /pmc/articles/PMC3983592/ /pubmed/24764753 Text en Copyright © 2014, Sociedade Brasileira de Genética. License information: This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Article
Castilla, Eduardo E.
Schuler-Faccini, Lavinia
From rumors to genetic isolates
title 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_short From rumors to genetic isolates
title_sort from rumors to genetic isolates
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3983592/
https://www.ncbi.nlm.nih.gov/pubmed/24764753
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