Cargando…

Applicability of digital PCR to the investigation of pediatric-onset genetic disorders

Early-onset rare diseases have a strong impact on child healthcare even though the incidence of each of these diseases is relatively low. In order to better manage the care of these children, it is imperative to quickly diagnose the molecular bases for these disorders as well as to develop technolog...

Descripción completa

Detalles Bibliográficos
Autor principal: Butchbach, Matthew E.R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5154671/
https://www.ncbi.nlm.nih.gov/pubmed/27990344
http://dx.doi.org/10.1016/j.bdq.2016.06.002
_version_ 1782474902330146816
author Butchbach, Matthew E.R.
author_facet Butchbach, Matthew E.R.
author_sort Butchbach, Matthew E.R.
collection PubMed
description Early-onset rare diseases have a strong impact on child healthcare even though the incidence of each of these diseases is relatively low. In order to better manage the care of these children, it is imperative to quickly diagnose the molecular bases for these disorders as well as to develop technologies with prognostic potential. Digital PCR (dPCR) is well suited for this role by providing an absolute quantification of the target DNA within a sample. This review illustrates how dPCR can be used to identify genes associated with pediatric-onset disorders, to identify copy number status of important disease-causing genes and variants and to quantify modifier genes. It is also a powerful technology to track changes in genomic biomarkers with disease progression. Based on its capability to accurately and reliably detect genomic alterations with high sensitivity and a large dynamic detection range, dPCR has the potential to become the tool of choice for the verification of pediatric disease-associated mutations identified by next generation sequencing, copy number determination and noninvasive prenatal screening.
format Online
Article
Text
id pubmed-5154671
institution National Center for Biotechnology Information
language English
publishDate 2016
publisher Elsevier
record_format MEDLINE/PubMed
spelling pubmed-51546712016-12-16 Applicability of digital PCR to the investigation of pediatric-onset genetic disorders Butchbach, Matthew E.R. Biomol Detect Quantif Review Early-onset rare diseases have a strong impact on child healthcare even though the incidence of each of these diseases is relatively low. In order to better manage the care of these children, it is imperative to quickly diagnose the molecular bases for these disorders as well as to develop technologies with prognostic potential. Digital PCR (dPCR) is well suited for this role by providing an absolute quantification of the target DNA within a sample. This review illustrates how dPCR can be used to identify genes associated with pediatric-onset disorders, to identify copy number status of important disease-causing genes and variants and to quantify modifier genes. It is also a powerful technology to track changes in genomic biomarkers with disease progression. Based on its capability to accurately and reliably detect genomic alterations with high sensitivity and a large dynamic detection range, dPCR has the potential to become the tool of choice for the verification of pediatric disease-associated mutations identified by next generation sequencing, copy number determination and noninvasive prenatal screening. Elsevier 2016-08-08 /pmc/articles/PMC5154671/ /pubmed/27990344 http://dx.doi.org/10.1016/j.bdq.2016.06.002 Text en © 2016 The Author(s) http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Review
Butchbach, Matthew E.R.
Applicability of digital PCR to the investigation of pediatric-onset genetic disorders
title Applicability of digital PCR to the investigation of pediatric-onset genetic disorders
title_full Applicability of digital PCR to the investigation of pediatric-onset genetic disorders
title_fullStr Applicability of digital PCR to the investigation of pediatric-onset genetic disorders
title_full_unstemmed Applicability of digital PCR to the investigation of pediatric-onset genetic disorders
title_short Applicability of digital PCR to the investigation of pediatric-onset genetic disorders
title_sort applicability of digital pcr to the investigation of pediatric-onset genetic disorders
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5154671/
https://www.ncbi.nlm.nih.gov/pubmed/27990344
http://dx.doi.org/10.1016/j.bdq.2016.06.002
work_keys_str_mv AT butchbachmatthewer applicabilityofdigitalpcrtotheinvestigationofpediatriconsetgeneticdisorders