2014
DOI: 10.2147/ijn.s58692
|View full text |Cite
|
Sign up to set email alerts
|

Heat-transfer-based detection of SNPs in the PAH gene of PKU patients

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 bas… Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
2
1

Citation Types

0
8
0

Year Published

2014
2014
2023
2023

Publication Types

Select...
4
2

Relationship

0
6

Authors

Journals

citations
Cited by 9 publications
(8 citation statements)
references
References 29 publications
0
8
0
Order By: Relevance
“…Chin et al (2014a) proposed that nanostructured DNA biosensors could detect base mutations. To speed up and simplify mutation screening in genes, Vanden Bon et al (2014) developed a method based on the change in heat transfer resistance upon thermal denaturation of double-stranded DNA on nanocrystalline diamond to detect the mutation in entire exons of the phenylalanine hydroxylase gene in phenylketonuria patients. To determine whether a fetus had a genetic defect, amniotic fluid technology, an expensive and possibly harmful diagnosis, normally was used.…”
Section: Unique Physical and Chemical Properties Of Nanomaterialsmentioning
confidence: 99%
“…Chin et al (2014a) proposed that nanostructured DNA biosensors could detect base mutations. To speed up and simplify mutation screening in genes, Vanden Bon et al (2014) developed a method based on the change in heat transfer resistance upon thermal denaturation of double-stranded DNA on nanocrystalline diamond to detect the mutation in entire exons of the phenylalanine hydroxylase gene in phenylketonuria patients. To determine whether a fetus had a genetic defect, amniotic fluid technology, an expensive and possibly harmful diagnosis, normally was used.…”
Section: Unique Physical and Chemical Properties Of Nanomaterialsmentioning
confidence: 99%
“…The recently developed heat‐transfer method (HTM) has shown to be a versatile read‐out platform in biosensors . HTM is a fast, label‐free, and sensitive technique that requires a minimum of instrumentation and can be used “on‐the‐bench.” HTM can be used for a wide range of applications including DNA mutation analysis , quantification of DNA sequences of interest , neurotransmitter detection , and phase transition analysis in lipid vesicle layers . Additionally, the platform can be used for the specific detection of human cells in phosphate buffered saline (PBS) solution by combining HTM with SIPs .…”
Section: Introductionmentioning
confidence: 99%
“…The focus of this manuscript is on hybridization techniques which are appealing due to simplicity: a nucleic acid probe is designed to hybridize to the perfectly matching target molecule with a high efficiency while having a low efficiency for targets 10 containing sequence variations. The principle is open to many technical implementations and miniaturization for use in biosensor devices [1,2,3,4,5,6]. However, hybridization has challenges on the side of probe design and dynamic range due to hybridization stringency conditions [7,8,9] which are not easy to optimize especially when parallelization is aimed for.…”
Section: Introductionmentioning
confidence: 99%