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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
Citation: 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
URI: http://hdl.handle.net/1942/16762
DOI: 10.2147/IJN.S58692
ISI #: 000333449000001
ISSN: 1178-2013
Category: A1
Type: Journal Contribution
Validation: ecoom, 2015
Appears in Collections: Research publications

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