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dc.contributor.authorWee, Line L.en_US
dc.contributor.authorVefring, Hegeen_US
dc.contributor.authorJonsson, Greteen_US
dc.contributor.authorJugessur, Astananden_US
dc.contributor.authorLie, Rolv Terjeen_US
dc.PublishedDisease Markers 2010, 29(5):243-249eng
dc.description.abstractPreeclampsia is a serious disorder affecting nearly 3% of all in the Western world. It is associated with hypertension and proteinuria, and several lines of evidence suggest that the renin-angiotensin system (RAS) may be involved in the development of hypertension at different stages of a preeclamptic pregnancy. In this study, we developed rapid genotyping assays on the LightCycler® instrument to allow the detection of genetic variants in the renin gene (REN) that may predispose to preeclampsia. The method is based on real-time PCR and allele-specific hybridization probes, followed by fluorescent melting curve analysis to expose a change in melting temperature (Tm). Ninety-two mother-father-child triads (n=276) from preeclamptic pregnancies were genotyped for three haplotype-tagging single nucleotide polymorphisms (htSNPs) in REN. All three htSNPs (rs5705, rs1464816 and rs3795575) were successfully genotyped. Furthermore, two unexpected nucleotide substitutions (rs11571084 and rs61757041) were identified within the selected hybridization probe area of rs1464816 and rs3795575 due to aberrant melting peaks. In conclusion, genotyping on the LightCycler® instrument proved to be rapid and highly reproducible. The ability to uncover additional nucleotide substitutions is particularly important in that it allows the identification of potentially etiological variants that might otherwise be overlooked by other genotyping methods.en_US
dc.publisherHindawi Publishing Corporationeng
dc.rightsAttribution CC BY 3.0eng
dc.subjectreal-time PCReng
dc.titleRapid genotyping of the human renin (REN) gene by the LightCycler® instrument: Identification of unexpected nucleotide substitutions within the selected hybridization probe areaen_US
dc.typePeer reviewed
dc.typeJournal article
dc.rights.holderCopyright 2010 Hindawi Publishing Corporation
dc.subject.nsiVDP::Medisinske Fag: 700en_US

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Attribution CC BY 3.0
Except where otherwise noted, this item's license is described as Attribution CC BY 3.0