Publication
Study of disease-relevant polymorphisms in the TLR4 and TLR9 genes: a novel method applied to the analysis of the Portuguese population
| dc.contributor.author | Carvalho, A | |
| dc.contributor.author | Marques, A | |
| dc.contributor.author | Maciel, P | |
| dc.contributor.author | Rodrigues, F | |
| dc.date.accessioned | 2012-12-04T23:19:41Z | |
| dc.date.available | 2012-12-04T23:19:41Z | |
| dc.date.issued | 2007 | |
| dc.description.abstract | Toll-like receptors (TLRs) are cellular receptors that mediate recognition of microbial challenges and the subsequent inflammatory response. Genetic variations within these inflammation-associated genes may alter host-pathogen defence mechanisms affecting susceptibility towards infectious diseases. Taking into account the significance of these genes, we developed a simple and rapid method based in the bi-directional PCR amplification of specific alleles (Bi-PASA) for genotyping known sequence variants in TLR4 (Asp299Gly and Thr399Ile) and TLR9 (T-1237C) genes. This method allows genotype determination in a single reaction and is amenable to large-scale analysis. We used Bi-PASA to characterize the distribution of these polymorphisms in the Portuguese population. A total of 388 randomly selected blood donors of Portuguese origin (203 females and 185 males) were genotyped and allele frequencies were determined. Among the tested individuals, 11.1% and 10.8% were heterozygous for Asp299Gly and Thr399Ile, respectively. In what concerns the T-1237C variation in TLR9, the variant allele was present in 19.4% of the individuals tested. Besides confirming the usefulness of the Bi-PASA in polymorphism analysis, the data presented provide valuable information on TLR polymorphisms in the Portuguese population that can be used to stratify risk patients with increased susceptibility to infection. | por |
| dc.identifier.citation | Mol Cell Probes. 2007;21(4):316-20. | por |
| dc.identifier.uri | http://hdl.handle.net/10400.23/364 | |
| dc.language.iso | eng | por |
| dc.peerreviewed | yes | por |
| dc.subject | Polimorfismo Genético | por |
| dc.subject | Reacção em Cadeia da Polimerase | por |
| dc.subject | Receptor “Toll-like” 4 | por |
| dc.title | Study of disease-relevant polymorphisms in the TLR4 and TLR9 genes: a novel method applied to the analysis of the Portuguese population | por |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.awardURI | info:eu-repo/grantAgreement/FCT/SFRH/SFRH%2FBD%2F11837%2F2003/PT | |
| oaire.awardURI | info:eu-repo/grantAgreement/FCT/POCI/POCI%2FSAU-ESP%2F61080%2F2004/PT | |
| oaire.fundingStream | SFRH | |
| oaire.fundingStream | POCI | |
| project.funder.identifier | http://doi.org/10.13039/501100001871 | |
| project.funder.identifier | http://doi.org/10.13039/501100001871 | |
| project.funder.name | Fundação para a Ciência e a Tecnologia | |
| project.funder.name | Fundação para a Ciência e a Tecnologia | |
| rcaap.rights | openAccess | por |
| rcaap.type | article | por |
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