Please use this identifier to cite or link to this item: http://hdl.handle.net/1942/16762
Title: Heat-transfer-based detection of SNPs in the PAH gene of PKU patients
Authors: 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 
Issue Date: 2014
Source: INTERNATIONAL JOURNAL OF NANOMEDICINE, 9, p. 1629-1640
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.
Notes: Michiels, L (reprint author), Hasselt Univ, Biomed Res Inst, Agoralaan Bldg C, B-3590 Diepenbeek, Belgium. luc.michiels@uhasselt.be
Keywords: mutation detection; heat-transfer resistance; melting temperature; nanocrystalline diamond; persistence length
Document URI: http://hdl.handle.net/1942/16762
ISSN: 1178-2013
e-ISSN: 1178-2013
DOI: 10.2147/IJN.S58692
ISI #: 000333449000001
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
Category: A1
Type: Journal Contribution
Validations: ecoom 2015
Appears in Collections:Research publications

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