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http://hdl.handle.net/1942/16762
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DC Field | Value | Language |
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dc.contributor.author | VANDEN BON, Natalie | - |
dc.contributor.author | VAN GRINSVEN, Bart | - |
dc.contributor.author | MURIB, Mohammed Sharif | - |
dc.contributor.author | YEAP, Weng Siang | - |
dc.contributor.author | HAENEN, Ken | - |
dc.contributor.author | DE CEUNINCK, Ward | - |
dc.contributor.author | WAGNER, Patrick | - |
dc.contributor.author | AMELOOT, Marcel | - |
dc.contributor.author | VERMEEREN, Veronique | - |
dc.contributor.author | MICHIELS, Luc | - |
dc.date.accessioned | 2014-04-30T12:15:18Z | - |
dc.date.available | 2014-04-30T12:15:18Z | - |
dc.date.issued | 2014 | - |
dc.identifier.citation | INTERNATIONAL JOURNAL OF NANOMEDICINE, 9, p. 1629-1640 | - |
dc.identifier.issn | 1178-2013 | - |
dc.identifier.uri | http://hdl.handle.net/1942/16762 | - |
dc.description.abstract | Conventional neonatal diagnosis of phenylketonuria is based on the presence of abnormal levels of phenylalanine in the blood. However, for carrier detection and prenatal diagnosis, direct detection of disease-correlated mutations is needed. To speed up and simplify mutation screening in genes, new technologies are developed. In this study, a heat-transfer method is evaluated as a mutation-detection technology in entire exons of the phenylalanine hydroxylase (PAH) gene. This method is based on the change in heat-transfer resistance (Rth) upon thermal denaturation of dsDNA (double-stranded DNA) on nanocrystalline diamond. First, ssDNA (single-stranded DNA) fragments that span the size range of the PAH exons were successfully immobilized on nanocrystalline diamond. Next, it was studied whether an Rth change could be observed during the thermal denaturation of these DNA fragments after hybridization to their complementary counterpart. A clear Rth shift during the denaturation of exon 5, exon 9, and exon 12 dsDNA was observed, corresponding to lengths of up to 123 bp. Finally, Rth was shown to detect prevalent single-nucleotide polymorphisms, c.473G.A (R158Q), c.932T.C (p.L311P), and c.1222C.T (R408W), correlated with phenylketonuria, displaying an effect related to the different melting temperatures of homoduplexes and heteroduplexes. | - |
dc.description.sponsorship | This work is supported by the Special Research Funds of Hasselt University, by the School for Life Sciences of the transnational University Limburg, and via the project G.0829.09 of the National Funds for Scientific Research Flanders FWO. Support by Dr Nick Smisdom, Bram Geerets, and Heman Kumar is gratefully acknowledged. | - |
dc.language.iso | en | - |
dc.rights | © 2014 Vanden Bon et al. This work is published by Dove Medical Press Limited, and licensed under Creative Commons Attribution – Non Commercial (unported,v3.0) License. The full terms of the License are available at http://creativecommons.org/licenses/by-nc/3.0/. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. Permissions beyond the scope of the License are administered by Dove Medical Press Limited. Information on how to request permission may be found at: http://www.dovepress.com/permissions.php | - |
dc.subject.other | mutation detection; heat-transfer resistance; melting temperature; nanocrystalline diamond; persistence length | - |
dc.title | Heat-transfer-based detection of SNPs in the PAH gene of PKU patients | - |
dc.type | Journal Contribution | - |
dc.identifier.epage | 1640 | - |
dc.identifier.spage | 1629 | - |
dc.identifier.volume | 9 | - |
local.bibliographicCitation.jcat | A1 | - |
dc.description.notes | Michiels, L (reprint author), Hasselt Univ, Biomed Res Inst, Agoralaan Bldg C, B-3590 Diepenbeek, Belgium. luc.michiels@uhasselt.be | - |
local.type.refereed | Refereed | - |
local.type.specified | Article | - |
dc.identifier.doi | 10.2147/IJN.S58692 | - |
dc.identifier.isi | 000333449000001 | - |
item.fullcitation | VANDEN BON, Natalie; VAN GRINSVEN, Bart; MURIB, Mohammed Sharif; YEAP, Weng Siang; HAENEN, Ken; DE CEUNINCK, Ward; WAGNER, Patrick; AMELOOT, Marcel; VERMEEREN, Veronique & MICHIELS, Luc (2014) Heat-transfer-based detection of SNPs in the PAH gene of PKU patients. In: INTERNATIONAL JOURNAL OF NANOMEDICINE, 9, p. 1629-1640. | - |
item.accessRights | Open Access | - |
item.contributor | VANDEN BON, Natalie | - |
item.contributor | VAN GRINSVEN, Bart | - |
item.contributor | MURIB, Mohammed Sharif | - |
item.contributor | YEAP, Weng Siang | - |
item.contributor | HAENEN, Ken | - |
item.contributor | DE CEUNINCK, Ward | - |
item.contributor | WAGNER, Patrick | - |
item.contributor | AMELOOT, Marcel | - |
item.contributor | VERMEEREN, Veronique | - |
item.contributor | MICHIELS, Luc | - |
item.fulltext | With Fulltext | - |
item.validation | ecoom 2015 | - |
crisitem.journal.issn | 1178-2013 | - |
crisitem.journal.eissn | 1178-2013 | - |
Appears in Collections: | Research publications |
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File | Description | Size | Format | |
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vanden bon 1.pdf | Published version | 1.17 MB | Adobe PDF | View/Open |
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