SNPs/Pools

Detalhes bibliográficos
Autor(a) principal: Silva, Susana N.
Data de Publicação: 2012
Outros Autores: Guerreiro, D, Gomes, M, Azevedo, Ana Paula, Castro, G Bezerra, Rueff, J., Gaspar, Jorge F.
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10362/142133
Resumo: We wish to thank Luisa Manso Oliveira, Lylliane Luz and Maria Catarina Soveral for their technical support. The Center for Research in Human Molecular Genetics (CIGMH), Projects PTDC/SAU/OSM/105572/2008 (FCT) and Fundacao Calouste Gulbenkian (Grant 69405) supported our current research. The PhD grant SFRH/BD/17828/2004 from FCT is also acknowledged.
id RCAP_2a10bba205d333f803922825de59243a
oai_identifier_str oai:run.unl.pt:10362/142133
network_acronym_str RCAP
network_name_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository_id_str 7160
spelling SNPs/PoolsA methodology for the identification of relevant SNPs in breast cancer epidemiologybreast cancerTOF MASS-SPECTROMETRYRISKDESIGNSDNA poolsPOOLED DNA SAMPLESGENESUSCEPTIBILITYPRIMER EXTENSIONSNPsLARGE-SCALE ASSOCIATIONSINGLE NUCLEOTIDE POLYMORPHISMSCOMPLEX DISEASESSDG 3 - Good Health and Well-beingWe wish to thank Luisa Manso Oliveira, Lylliane Luz and Maria Catarina Soveral for their technical support. The Center for Research in Human Molecular Genetics (CIGMH), Projects PTDC/SAU/OSM/105572/2008 (FCT) and Fundacao Calouste Gulbenkian (Grant 69405) supported our current research. The PhD grant SFRH/BD/17828/2004 from FCT is also acknowledged.The identification of allelic variants of human genes is of great importance when assessing genetic susceptibility. The emerging role of genetic polymorphisms in association studies has created the need for high throughput genotyping methodologies that allow a more rapid identification of relevant polymorphisms related to individual cancer risk enabling the extension to large-scale association studies. DNA pooling methodology may be of great importance considering the cost, time and labor that are involved in large-scale genotyping analysis carried out on individual samples. Alternatively, when using pooled samples which are made up of DNA from many individuals treated as a single sample, these factors are decrease drastically. In this way, the use of DNA pooling methodology, as a pre-selection tool, allows the identification of the most relevant polymorphisms to be studied, facilitating the estimation of the allelic frequency of each SNP in different populations. The present study initially aimed to validate the DNA pooling approach for the identification of genetic polymorphisms potentially associated with individual cancer risk generating pools with known allelic frequencies and using studies ongoing in the laboratory. Finally, our main aim was to test the accuracy of the pooled DNA analysis comparing the results of the allelic frequencies determined using pooled samples with the allelic frequency previously estimated by individual genotyping and previously published. In order to analyze the possibility of establishing differences between populations, we created DNA pools using a Portuguese control population, a breast cancer population and a Xavante Indian population characterized by a total absence of breast cancer cases. The pools were firstly created with known allelic frequencies, previously determined by individual genotyping, and, latter, randomly incremented in sample size to 200 patients and controls. Our results showed that the DNA pooling approach was a useful tool for the analysis of allelic distribution in the different populations studied. In conclusion, our results showed that this methodology can be applied as an effective approach to identify SNPs of importance in genetic susceptibility to disease which may be used in association studies conducted subsequently by individual genotyping.NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)RUNSilva, Susana N.Guerreiro, DGomes, MAzevedo, Ana PaulaCastro, G BezerraRueff, J.Gaspar, Jorge F.2022-07-21T00:31:28Z2012-022012-02-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article6application/pdfhttp://hdl.handle.net/10362/142133eng1021-335XPURE: 485602https://doi.org/10.3892/or.2011.1523info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2024-03-11T05:19:33Zoai:run.unl.pt:10362/142133Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-20T03:50:09.764437Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv SNPs/Pools
A methodology for the identification of relevant SNPs in breast cancer epidemiology
title SNPs/Pools
spellingShingle SNPs/Pools
Silva, Susana N.
breast cancer
TOF MASS-SPECTROMETRY
RISK
DESIGNS
DNA pools
POOLED DNA SAMPLES
GENE
SUSCEPTIBILITY
PRIMER EXTENSION
SNPs
LARGE-SCALE ASSOCIATION
SINGLE NUCLEOTIDE POLYMORPHISMS
COMPLEX DISEASES
SDG 3 - Good Health and Well-being
title_short SNPs/Pools
title_full SNPs/Pools
title_fullStr SNPs/Pools
title_full_unstemmed SNPs/Pools
title_sort SNPs/Pools
author Silva, Susana N.
author_facet Silva, Susana N.
Guerreiro, D
Gomes, M
Azevedo, Ana Paula
Castro, G Bezerra
Rueff, J.
Gaspar, Jorge F.
author_role author
author2 Guerreiro, D
Gomes, M
Azevedo, Ana Paula
Castro, G Bezerra
Rueff, J.
Gaspar, Jorge F.
author2_role author
author
author
author
author
author
dc.contributor.none.fl_str_mv NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)
RUN
dc.contributor.author.fl_str_mv Silva, Susana N.
Guerreiro, D
Gomes, M
Azevedo, Ana Paula
Castro, G Bezerra
Rueff, J.
Gaspar, Jorge F.
dc.subject.por.fl_str_mv breast cancer
TOF MASS-SPECTROMETRY
RISK
DESIGNS
DNA pools
POOLED DNA SAMPLES
GENE
SUSCEPTIBILITY
PRIMER EXTENSION
SNPs
LARGE-SCALE ASSOCIATION
SINGLE NUCLEOTIDE POLYMORPHISMS
COMPLEX DISEASES
SDG 3 - Good Health and Well-being
topic breast cancer
TOF MASS-SPECTROMETRY
RISK
DESIGNS
DNA pools
POOLED DNA SAMPLES
GENE
SUSCEPTIBILITY
PRIMER EXTENSION
SNPs
LARGE-SCALE ASSOCIATION
SINGLE NUCLEOTIDE POLYMORPHISMS
COMPLEX DISEASES
SDG 3 - Good Health and Well-being
description We wish to thank Luisa Manso Oliveira, Lylliane Luz and Maria Catarina Soveral for their technical support. The Center for Research in Human Molecular Genetics (CIGMH), Projects PTDC/SAU/OSM/105572/2008 (FCT) and Fundacao Calouste Gulbenkian (Grant 69405) supported our current research. The PhD grant SFRH/BD/17828/2004 from FCT is also acknowledged.
publishDate 2012
dc.date.none.fl_str_mv 2012-02
2012-02-01T00:00:00Z
2022-07-21T00:31:28Z
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://hdl.handle.net/10362/142133
url http://hdl.handle.net/10362/142133
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 1021-335X
PURE: 485602
https://doi.org/10.3892/or.2011.1523
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv 6
application/pdf
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
institution RCAAP
reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
repository.mail.fl_str_mv
_version_ 1799138098823561216