Rapid and inexpensive screening of genomic copy number variations using a novel quantitative fluorescent PCR method

Martin Stofanko, Joan Han, Sarah H. Elsea, Heloísa B. Pena, Higgor Gonçalves-Dornelas, Sérgio Danilo Junho Pena

Research output: Contribution to journalArticle

Abstract

Detection of human microdeletion and microduplication syndromes poses significant burden on public healthcare systems in developing countries. With genome-wide diagnostic assays frequently inaccessible, targeted low-cost PCR-based approaches are preferred. However, their reproducibility depends on equally efficient amplification using a number of target and control primers. To address this, the recently described technique called Microdeletion/ Microduplication Quantitative Fluorescent PCR (MQF-PCR) was shown to reliably detect four human syndromes by quantifying DNA amplification in an internally controlled PCR reaction. Here, we confirm its utility in the detection of eight human microdeletion syndromes, including the more common WAGR, Smith-Magenis, and Potocki-Lupski syndromes with 100% sensitivity and 100% specificity. We present selection, design, and performance evaluation of detection primers using variety of approaches. We conclude that MQF-PCR is an easily adaptable method for detection of human pathological chromosomal aberrations.

Original languageEnglish (US)
Pages (from-to)589-594
Number of pages6
JournalDisease Markers
Volume35
Issue number6
DOIs
StatePublished - Jan 1 2013

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Amplification
Screening
Polymerase Chain Reaction
Aberrations
Developing countries
Assays
Genes
DNA
Chromosome Aberrations
Developing Countries
Costs
Genome
Delivery of Health Care
Costs and Cost Analysis
Sensitivity and Specificity

All Science Journal Classification (ASJC) codes

  • Molecular Biology
  • Genetics
  • Clinical Biochemistry
  • Biochemistry, medical

Cite this

Rapid and inexpensive screening of genomic copy number variations using a novel quantitative fluorescent PCR method. / Stofanko, Martin; Han, Joan; Elsea, Sarah H.; Pena, Heloísa B.; Gonçalves-Dornelas, Higgor; Pena, Sérgio Danilo Junho.

In: Disease Markers, Vol. 35, No. 6, 01.01.2013, p. 589-594.

Research output: Contribution to journalArticle

Stofanko, Martin ; Han, Joan ; Elsea, Sarah H. ; Pena, Heloísa B. ; Gonçalves-Dornelas, Higgor ; Pena, Sérgio Danilo Junho. / Rapid and inexpensive screening of genomic copy number variations using a novel quantitative fluorescent PCR method. In: Disease Markers. 2013 ; Vol. 35, No. 6. pp. 589-594.
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