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https://hdl.handle.net/1822/67704
Título: | Study of disease-relevant polymorphisms in the TLR4 and TLR9 genes: a novel method applied to the analysis of the Portuguese population |
Autor(es): | Carvalho, Agostinho Marques, A. Maciel, P. Rodrigues, Fernando José dos Santos |
Palavras-chave: | Alleles European Continental Ancestry Group Female Gene Frequency Genotype Humans Male Polymerase Chain Reaction Portugal Toll-Like Receptor 4 Toll-Like Receptor 9 Polymorphism, Genetic Bi-PASA Toll-like receptor polymorphism |
Data: | Ago-2007 |
Editora: | Elsevier |
Revista: | Molecular and Cellular Probes |
Resumo(s): | 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. |
Tipo: | Artigo |
URI: | https://hdl.handle.net/1822/67704 |
DOI: | 10.1016/j.mcp.2007.03.005 |
ISSN: | 0890-8508 |
e-ISSN: | 1096-1194 |
Arbitragem científica: | yes |
Acesso: | Acesso aberto |
Aparece nas coleções: | ICVS - Artigos em revistas internacionais / Papers in international journals |
Ficheiros deste registo:
Ficheiro | Descrição | Tamanho | Formato | |
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Carvalho-2007-Study-of-disease-relevant-polymorph.pdf | 188,93 kB | Adobe PDF | Ver/Abrir |