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Inbreeding levels in Northeast Brazil: Strategies for the prospecting of new genetic disorders

A new autosomal recessive genetic condition, the SPOAN syndrome (an acronym for spastic paraplegia, optic atrophy and neuropathy syndrome), was recently discovered in an isolated region of the State of Rio Grande do Norte in Northeast Brazil, in a population that was identified by the IBGE (Brazilia...

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Autores principales: Santos, Silvana, Kok, Fernando, Weller, Mathias, de Paiva, Francisco Rennan Lopes, Otto, Paulo A.
Formato: Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Genética 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3036858/
https://www.ncbi.nlm.nih.gov/pubmed/21637472
http://dx.doi.org/10.1590/S1415-47572010005000020
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author Santos, Silvana
Kok, Fernando
Weller, Mathias
de Paiva, Francisco Rennan Lopes
Otto, Paulo A.
author_facet Santos, Silvana
Kok, Fernando
Weller, Mathias
de Paiva, Francisco Rennan Lopes
Otto, Paulo A.
author_sort Santos, Silvana
collection PubMed
description A new autosomal recessive genetic condition, the SPOAN syndrome (an acronym for spastic paraplegia, optic atrophy and neuropathy syndrome), was recently discovered in an isolated region of the State of Rio Grande do Norte in Northeast Brazil, in a population that was identified by the IBGE (Brazilian Institute of Geography and Statistics) as belonging to the Brazilian communities with the highest rates of “deficiencies” (Neri, 2003), a term used to describe diseases, malformations, and handicaps in general. This prompted us to conduct a study of consanguinity levels in five of its municipal districts by directly interviewing their inhabitants. Information on 7,639 couples (corresponding to about 40% of the whole population of the studied districts) was obtained. The research disclosed the existence of very high frequencies of consanguineous marriages, which varied from about 9% to 32%, suggesting the presence of a direct association between genetic diseases such as the SPOAN syndrome, genetic drift and inbreeding levels. This fact calls for the introduction of educational programs for the local populations, as well as for further studies aiming to identify and characterize other genetic conditions. Epidemiological strategies developed to collect inbreeding data, with the collaboration of health systems available in the region, might be very successful in the prospecting of genetic disorders.
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spelling pubmed-30368582011-06-02 Inbreeding levels in Northeast Brazil: Strategies for the prospecting of new genetic disorders Santos, Silvana Kok, Fernando Weller, Mathias de Paiva, Francisco Rennan Lopes Otto, Paulo A. Genet Mol Biol Human and Medical Genetics A new autosomal recessive genetic condition, the SPOAN syndrome (an acronym for spastic paraplegia, optic atrophy and neuropathy syndrome), was recently discovered in an isolated region of the State of Rio Grande do Norte in Northeast Brazil, in a population that was identified by the IBGE (Brazilian Institute of Geography and Statistics) as belonging to the Brazilian communities with the highest rates of “deficiencies” (Neri, 2003), a term used to describe diseases, malformations, and handicaps in general. This prompted us to conduct a study of consanguinity levels in five of its municipal districts by directly interviewing their inhabitants. Information on 7,639 couples (corresponding to about 40% of the whole population of the studied districts) was obtained. The research disclosed the existence of very high frequencies of consanguineous marriages, which varied from about 9% to 32%, suggesting the presence of a direct association between genetic diseases such as the SPOAN syndrome, genetic drift and inbreeding levels. This fact calls for the introduction of educational programs for the local populations, as well as for further studies aiming to identify and characterize other genetic conditions. Epidemiological strategies developed to collect inbreeding data, with the collaboration of health systems available in the region, might be very successful in the prospecting of genetic disorders. Sociedade Brasileira de Genética 2010 2010-06-01 /pmc/articles/PMC3036858/ /pubmed/21637472 http://dx.doi.org/10.1590/S1415-47572010005000020 Text en Copyright © 2010, Sociedade Brasileira de Genética. http://creativecommons.org/licenses/by/2.0/ 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 Human and Medical Genetics
Santos, Silvana
Kok, Fernando
Weller, Mathias
de Paiva, Francisco Rennan Lopes
Otto, Paulo A.
Inbreeding levels in Northeast Brazil: Strategies for the prospecting of new genetic disorders
title Inbreeding levels in Northeast Brazil: Strategies for the prospecting of new genetic disorders
title_full Inbreeding levels in Northeast Brazil: Strategies for the prospecting of new genetic disorders
title_fullStr Inbreeding levels in Northeast Brazil: Strategies for the prospecting of new genetic disorders
title_full_unstemmed Inbreeding levels in Northeast Brazil: Strategies for the prospecting of new genetic disorders
title_short Inbreeding levels in Northeast Brazil: Strategies for the prospecting of new genetic disorders
title_sort inbreeding levels in northeast brazil: strategies for the prospecting of new genetic disorders
topic Human and Medical Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3036858/
https://www.ncbi.nlm.nih.gov/pubmed/21637472
http://dx.doi.org/10.1590/S1415-47572010005000020
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