Logo do repositório
 
Publicação

SNPs/Pools

2012-02Artigo científico Acesso aberto
Ver registo simples
dc.contributor.authorSilva, Susana N.
dc.contributor.authorGuerreiro, D
dc.contributor.authorGomes, M
dc.contributor.authorAzevedo, Ana Paula
dc.contributor.authorCastro, G Bezerra
dc.contributor.authorRueff, J.
dc.contributor.authorRueff, Jose
dc.contributor.authorGaspar, Jorge F.
dc.contributor.institutionNOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)
dc.contributor.pblSpandidos Publications
dc.date.accessioned2022-07-19T22:18:55Z
dc.date.available2022-07-21T00:31:28Z
dc.date.embargoedUntil2022-07-20
dc.date.issued2012-02
dc.descriptionWe 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.
dc.description.abstractThe 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.en
dc.description.versionpublishersversion
dc.description.versionpublished
dc.format.extent6
dc.format.extent343260
dc.identifier.doi10.3892/or.2011.1523
dc.identifier.issn1021-335X
dc.identifier.otherPURE: 485602
dc.identifier.otherPURE UUID: 6b6f40de-6150-4e96-9d39-80eac1b51c12
dc.identifier.otherresearchoutputwizard: 26455
dc.identifier.otherPubMed: 22024983
dc.identifier.otherWOS: 000298825900031
dc.identifier.otherScopus: 84855752754
dc.identifier.otherORCID: /0000-0002-9122-0732/work/116080873
dc.identifier.urihttp://hdl.handle.net/10362/142133
dc.language.isoeng
dc.peerreviewedyes
dc.relationinfo:eu-repo/grantAgreement/FCT/SFRH/SFRH%2FBD%2F17828%2F2004/PT
dc.relationGENETIC SUSCEPTIBILITY TO BREAST CANCER
dc.subjectbreast cancer
dc.subjectTOF MASS-SPECTROMETRY
dc.subjectRISK
dc.subjectDESIGNS
dc.subjectDNA pools
dc.subjectPOOLED DNA SAMPLES
dc.subjectGENE
dc.subjectSUSCEPTIBILITY
dc.subjectPRIMER EXTENSION
dc.subjectSNPs
dc.subjectLARGE-SCALE ASSOCIATION
dc.subjectSINGLE NUCLEOTIDE POLYMORPHISMS
dc.subjectCOMPLEX DISEASES
dc.subjectSDG 3 - Good Health and Well-being
dc.titleSNPs/Poolsen
dc.title.subtitleA methodology for the identification of relevant SNPs in breast cancer epidemiologyen
dc.typejournal article
degois.publication.firstPage511
degois.publication.issue2
degois.publication.lastPage516
degois.publication.titleOncology Reports
degois.publication.volume27
dspace.entity.typePublication
oaire.awardNumberSFRH/BD/17828/2004
oaire.awardTitleGENETIC SUSCEPTIBILITY TO BREAST CANCER
oaire.awardURIinfo:eu-repo/grantAgreement/FCT//SFRH%2FBD%2F17828%2F2004/PT
person.familyNameRueff
person.givenNameJose
person.identifier793666
person.identifier.ciencia-id0E15-908D-EA21
person.identifier.orcid0000-0002-8456-7295
person.identifier.ridE-6426-2013
person.identifier.scopus-author-id7006536439
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
rcaap.rightsopenAccess
relation.isAuthorOfPublication91a3b5ac-0328-498d-8cb8-08555b202306
relation.isAuthorOfPublication.latestForDiscovery91a3b5ac-0328-498d-8cb8-08555b202306
relation.isProjectOfPublication9f774eb1-7ac6-4769-a84a-44c5d6da3a59
relation.isProjectOfPublication.latestForDiscovery9f774eb1-7ac6-4769-a84a-44c5d6da3a59

Ficheiros

Principais
A mostrar 1 - 1 de 1
Miniatura
Nome:
Oncol Rep Vol27 No2 Pg511.pdf
Tamanho:
335.21 KB
Formato:
Adobe Portable Document Format
Ver/Abrir

Coleções

NMS: ToxOmics - Artigos em revista internacional com arbitragem científica