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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...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Sociedade Brasileira de Genética
2014
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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). |
format | Online Article Text |
id | pubmed-3983592 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2014 |
publisher | Sociedade Brasileira de Genética |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT castillaeduardoe fromrumorstogeneticisolates AT schulerfaccinilavinia fromrumorstogeneticisolates |