Evidence map›Paper›PMID 23390954›Full record

ArticleBMC research notes2013

Three multiplex snapshot assays for SNP genotyping in candidate innate immune genes.

Lisa M Esteves, Sara M Bulhões, Maria J Brilhante, Luisa Mota-Vieira

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Article in BMC research notes, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

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0cells of the map it votes in
6citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

Who cites it

6 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

4 authors.

Lisa M EstevesMolecular Genetics and Pathology Unit, Hospital of Divino Espírito Santo of Ponta Delgada, EPE, São Miguel Island, Azores, Portugal.
Sara M Bulhões
Maria J Brilhante
Luisa Mota-Vieira

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundInnate immune system is the first line of research when studying immune response to diverse infections and autoimmune/inflammatory diseases. This immune response has been reported to be genetically diverse, due to polymorphisms coded by different genes. For this reason, our purpose was to develop a multiplex assay that allows the genotyping of candidate single nucleotide polymorphisms (SNPs) in innate immune genes.

findingsWe developed three multiplex PCR panels coupled with the minisequencing (SNaPshot) technique (multiplex PCR, multiplex primer extension, and capillary electrophoresis). The panels were tested in a sample set composed of 100 anonymous DNAs from healthy blood donors living in São Miguel Island (Azores, Portugal). Sixteen relevant SNPs among nine genes of the innate immune system--IL1α, IL1β, IL6, IL10, IL12RB1, TLR2, TLR4, TLR9 and CD14--were genotyped and validated by direct sequencing, with the exception of one that was undetected by minisequencing. We suggest that these panels can be used in future studies for detection of risk gene variants in several populations and/or diseases.

conclusionsIn summary, we propose a multiplex assay that is able to identify the most frequent candidate SNPs in innate immune genes, using a medium scale genotyping platform. The assays can be used to evaluate the risk gene variants in populations of various geographic origins.

Indexed as

Genotyping TechniquesPolymorphism, Single NucleotideAutoimmunityBase SequenceElectrophoresis, CapillaryHumansImmunity, InnateInflammationMolecular Sequence DataMultiplex Polymerase Chain ReactionPolymerase Chain ReactionSequence Analysis, DNA

Identifiers

PMID23390954
PMCPMC3626843

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.