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Rapid and Inexpensive Screening of Genomic Copy Number Variations Using a Novel Quantitative Fluorescent PCR Method
Joint Authors
Gonçalves-Dornelas, Higgor
Han, Joan C.
Pena, Sérgio Danilo Junho
Pena, Heloisa B.
Stofanko, Martin
Elsea, Sarah H.
Source
Issue
Vol. 2013, Issue 2013 (31 Dec. 2013), pp.1-6, 6 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2013-10-30
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Stofanko, Martin& Han, Joan C.& Elsea, Sarah H.& Pena, Heloisa B.& Gonçalves-Dornelas, Higgor& Pena, Sérgio Danilo Junho. 2013. Rapid and Inexpensive Screening of Genomic Copy Number Variations Using a Novel Quantitative Fluorescent PCR Method. Disease Markers،Vol. 2013, no. 2013, pp.1-6.
https://search.emarefa.net/detail/BIM-1031219
Modern Language Association (MLA)
Stofanko, Martin…[et al.]. Rapid and Inexpensive Screening of Genomic Copy Number Variations Using a Novel Quantitative Fluorescent PCR Method. Disease Markers No. 2013 (2013), pp.1-6.
https://search.emarefa.net/detail/BIM-1031219
American Medical Association (AMA)
Stofanko, Martin& Han, Joan C.& Elsea, Sarah H.& Pena, Heloisa B.& Gonçalves-Dornelas, Higgor& Pena, Sérgio Danilo Junho. Rapid and Inexpensive Screening of Genomic Copy Number Variations Using a Novel Quantitative Fluorescent PCR Method. Disease Markers. 2013. Vol. 2013, no. 2013, pp.1-6.
https://search.emarefa.net/detail/BIM-1031219
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1031219